GM00038

GM00038 Fibroblast from Skin, Unspecified

Description:

APPARENTLY HEALTHY INDIVIDUAL

Affected:

No

Sex:

Female

Age:

9 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Apparently Healthy Collection

Biopsy Source

Unspecified

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

Fibroblast from Skin, Unspecified

Race

Black/African American

Family Member

Relation to Proband

daughter

Confirmation

Karyotypic analysis and Case history

Species

Homo sapiens

Common Name

Human

Remarks

46,XX; 2% of cells show random chromosome loss and 4% show random chromosomal aberrations; skin biopsy; mother is GM00043B

Characterizations

PDL at Freeze

5.57

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis

Phenotypic Data

Remarks

46,XX; 2% of cells show random chromosome loss and 4% show random chromosomal aberrations; skin biopsy; mother is GM00043B

Publications

A Single-Cell Metabolic Profiling Characterizes Human Aging via SlipChip-SERS, Fugang Liu, Jiaqing Liu, Yang Luo, Siyi Wu, Xu Liu, Haoran Chen, Zhewen Luo, Haitao Yuan, Feng Shen, Fangfang Zhu, Jian Ye Adv Sci (Weinh).: 2024

PubMed ID: 39231358

Park S, Oh AY, Hong BS, Shin YJ, Jang H, Seo H, Kang SM, Woo TG, Park HP, Jeong J, Kim HJ, Kim BH, Kwon Y, Park BJ, The therapeutic effect of DX2 inhibition in nicotine-induced lung cancer progression Molecular therapy Oncology32:200875 2024

PubMed ID: 39351074

Kaul L, Grundmann CE, Köll-Weber M, Löffler H, Weiz A, Zannettino ACW, Richter K, Süss R, A Thermosensitive, Chitosan-Based Hydrogel as Delivery System for Antibacterial Liposomes to Surgical Site Infections Pharmaceutics14:200875 2022

PubMed ID: 36559332

Langer C, Köll-Weber M, Holzer M, Hantel C, Süss R, Mitotane Nanocarriers for the Treatment of Adrenocortical Carcinoma: Evaluation of Albumin-Stabilized Nanoparticles and Liposomes in a Preclinical In Vitro Study with 3D Spheroids Pharmaceutics14:200875 2022

PubMed ID: 36145639

Vidak S, Serebryannyy LA, Pegoraro G, Misteli T, Activation of endoplasmic reticulum stress in premature aging via the inner nuclear membrane protein SUN2 Cell reports42:112534 2022

PubMed ID: 37210724

Ligezka AN, Radenkovic S, Saraswat M, Garapati K, Ranatunga W, Krzysciak W, Yanaihara H, Preston G, Brucker W, McGovern RM, Reid JM, Cassiman D, Muthusamy K, Johnsen C, Mercimek-Andrews S, Larson A, Lam C, Edmondson AC, Ghesquière B, Witters P, Raymond K, Oglesbee D, Pandey A, Perlstein EO, Kozicz T, Morava E, Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications Annals of neurology42:112534 2021

PubMed ID: 34652821

Ng BG, Sosicka P, Fenaille F, Harroche A, Vuillaumier-Barrot S, Porterfield M, Xia ZJ, Wagner S, Bamshad MJ, Vergnes-Boiteux MC, Cholet S, Dalton S, Dell A, Dupré T, Fiore M, Haslam SM, Huguenin Y, Kumagai T, Kulik M, McGoogan K, Michot C, Nickerson DA, Pascreau T, Borgel D, Raymond K, Warad D, University of Washington Center for Mendelian Genomics (UW-CMG) D, Flanagan-Steet H, Steet R, Tiemeyer M, Seta N, Bruneel A, Freeze HH, A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction American journal of human genetics108:1040-1052 2021

PubMed ID: 33964207

Ramarajan MG, Saraswat M, Budhraja R, Garapati K, Raymond K, Pandey A, Mass spectrometric analysis of chondroitin sulfate-linked peptides Journal of proteins and proteomics13:187-203 2021

PubMed ID: 36213313

Wedge ME, Jennings VA, Crupi MJF, Poutou J, Jamieson T, Pelin A, Pugliese G, de Souza CT, Petryk J, Laight BJ, Boileau M, Taha Z, Alluqmani N, McKay HE, Pikor L, Khan ST, Azad T, Rezaei R, Austin B, He X, Mansfield D, Rose E, Brown EEF, Crawford N, Alkayyal A, Surendran A, Singaravelu R, Roy DG, Migneco G, McSweeney B, Cottee ML, Jacobus EJ, Keller BA, Yamaguchi TN, Boutros PC, Geoffrion M, Rayner KJ, Chatterjee A, Auer RC, Diallo JS, Gibbings D, tenOever BR, Melcher A, Bell JC, Ilkow CS, Virally programmed extracellular vesicles sensitize cancer cells to oncolytic virus and small molecule therapy Nature communications13:1898 2021

PubMed ID: 35393414

Ashikawa H, Mogi H, Honda T, Nakamura H, Murayama T, Beneficial effects of primidone in Niemann-Pick disease type C (NPC)-model cells and mice: Reduction of unesterified cholesterol levels in cells and extension of lifespan in mice European journal of pharmacology896:173907 2020

PubMed ID: 33503462

Even A, Morelli G, Turchetto S, Shilian M, Bail RL, Laguesse S, Krusy N, Brisker A, Brandis A, Inbar S, Chariot A, Saudou F, Dietrich P, Dragatsis I, Brone B, Broix L, Rigo JM, Weil M, Nguyen L, ATP-citrate lyase promotes axonal transport across species Nature communications12:5878 2020

PubMed ID: 34620845

Kang SM, Yoon MH, Ahn J, Kim JE, Kim SY, Kang SY, Joo J, Park S, Cho JH, Woo TG, Oh AY, Chung KJ, An SY, Hwang TS, Lee SY, Kim JS, Ha NC, Song GY, Park BJ, Progerinin, an optimized progerin-lamin A binding inhibitor, ameliorates premature senescence phenotypes of Hutchinson-Gilford progeria syndrome Communications biology4:5 2020

PubMed ID: 33398110

Kang SM, Yoon MH, Lee SJ, Ahn J, Yi SA, Nam KH, Park S, Woo TG, Cho JH, Lee J, Ha NC, Park BJ, Human WRN is an intrinsic inhibitor of progerin, abnormal splicing product of lamin A Scientific reports11:9122 2020

PubMed ID: 33907225

Song X, Ma F, Herrup K, Accumulation of Cytoplasmic DNA Due to ATM Deficiency Activates the Microglial Viral Response System with Neurotoxic Consequences The Journal of neuroscience : the official journal of the Society for Neuroscience39:6378-6394 2019

PubMed ID: 31189575

Fleischer JG, Schulte R, Tsai HH, Tyagi S, Ibarra A, Shokhirev MN, Huang L, Hetzer MW, Navlakha S, Predicting age from the transcriptome of human dermal fibroblasts Genome Biology19:6378-6394 2018

PubMed ID: 30567591

Flint M, Chatterjee P, Lin DL, McMullan LK, Shrivastava-Ranjan P, Bergeron É, Lo MK, Welch SR, Nichol ST, Tai AW, Spiropoulou CF, A genome-wide CRISPR screen identifies N-acetylglucosamine-1-phosphate transferase as a potential antiviral target for Ebola virus Nature communications10:285 2018

PubMed ID: 30655525

Ng BG, Lourenço CM, Losfeld ME, Buckingham KJ, Kircher M, Nickerson DA, Shendure J, Bamshad MJ, University of Washington Center for Mendelian Genomics MJ, Freeze HH, Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation Journal of inherited metabolic disease42:993-997 2018

PubMed ID: 30945312

Nguyen D, Stutz R, Schorr S, Lang S, Pfeffer S, Freeze HH, Förster F, Helms V, Dudek J, Zimmermann R, Proteomics reveals signal peptide features determining the client specificity in human TRAP-dependent ER protein import Nature communications9:3765 2017

PubMed ID: 30217974

Batenburg NL, Mitchell TR, Leach DM, Rainbow AJ, Zhu XD, Cockayne Syndrome group B protein interacts with TRF2 and regulates telomere length and stability Nucleic acids research40:9661-74 2012

PubMed ID: 22904069

Candelario J, Chen LY, Marjoram P, Reddy S, Comai L., A filtering strategy identifies FOXQ1 as a potential effector of lamin A dysfunction. Aging4:567-77 2012

PubMed ID: 22948034

McKenna DJ, Doherty BA, Downes CS, McKeown SR, McKelvey-Martin VJ, Use of the comet-FISH assay to compare DNA damage and repair in p53 and hTERT genes following ionizing radiation PloS one7:e49364 2012

PubMed ID: 23145163

Candelario J, Borrego S, Reddy S, Comai L, Accumulation of distinct prelamin A variants in human diploid fibroblasts differentially affects cell homeostasis Experimental cell research317:319-29 2010

PubMed ID: 20974128

Hadzic T, Aykin-Burns N, Zhu Y, Coleman MC, Leick K, Jacobson GM, Spitz DR, Paclitaxel combined with inhibitors of glucose and hydroperoxide metabolism enhances breast cancer cell killing via H2O2-mediated oxidative stress Free radical biology & medicine48:1024-33 2009

PubMed ID: 20083194

Pegoraro G, Kubben N, Wickert U, Göhler H, Hoffmann K, Misteli T, Ageing-related chromatin defects through loss of the NURD complex Nature cell biology11:1261-7 2009

PubMed ID: 19734887

Hoerter JD, Ward CS, Bale KD, Gizachew AN, Graham R, Reynolds J, Ward ME, Choi C, Kagabo JL, Sauer M, Kuipers T, Hotchkiss T, Banner N, Chellson RA, Ohaeri T, Gant L, Vanderhill L, Effect of UVA fluence rate on indicators of oxidative stress in human dermal fibroblasts International journal of biological sciences4:63-70 2007

PubMed ID: 18311331

Yamauchi Y, Reid PC, Sperry JB, Furukawa K, Takeya M, Chang CC, Chang TY, Plasma membrane rafts complete cholesterol synthesis by participating in retrograde movement of precursor sterols The Journal of biological chemistry282:34994-5004 2007

PubMed ID: 17916561

Merla G, Howald C, Henrichsen CN, Lyle R, Wyss C, Zabot MT, Antonarakis SE, Reymond A, Submicroscopic deletion in patients with williams-beuren syndrome influences expression levels of the nonhemizygous flanking genes American journal of human genetics79:332-41 2006

PubMed ID: 16826523

Pal A, Severin F, Lommer B, Shevchenko A, Zerial M, Huntingtin-HAP40 complex is a novel Rab5 effector that regulates early endosome motility and is up-regulated in Huntington's disease The Journal of cell biology172:605-18 2006

PubMed ID: 16476778

Rydberg B, Cooper B, Cooper PK, Holley WR, Chatterjee A, Dose-dependent misrejoining of radiation-induced DNA double-strand breaks in human fibroblasts: experimental and theoretical study for high- and low-LET radiation Radiation research163:526-34 2005

PubMed ID: 15850414

Zhu Z, Ramos J, Kampa K, Adimoolam S, Sirisawad M, Yu Z, Chen D, Naumovski L, Lopez CD, Control of ASPP2/(53BP2L) protein levels by proteasomal degradation modulates p53 apoptotic function The Journal of biological chemistry280:34473-80 2005

PubMed ID: 16091363

Csoka AB, Cao H, Sammak PJ, Constantinescu D, Schatten GP, Hegele RA, Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes. J Med Genet41(4):304-8 2004

PubMed ID: 15060110

Csoka AB, English SB, Simkevich CP, Ginzinger DG, Butte AJ, Schatten GP, Rothman FG, Sedivy JM, Genome-scale expression profiling of Hutchinson-Gilford progeria syndrome reveals widespread transcriptional misregulation leading to mesodermal/mesenchymal defects and accelerated atherosclerosis. Aging Cell3(4):235-43 2004

PubMed ID: 15268757

Huusko P, Ponciano-Jackson D, Wolf M, Kiefer JA, Azorsa DO, Tuzmen S, Weaver D, Robbins C, Moses T, Allinen M, Hautaniemi S, Chen Y, Elkahloun A, Basik M, Bova GS, Bubendorf L, Lugli A, Sauter G, Schleutker J, Ozcelik H, Elowe S, Pawson T, Trent JM, Carpten JD, Kallioniemi OP, Mousses S, Nonsense-mediated decay microarray analysis identifies mutations of EPHB2 in human prostate cancer. Nat Genet36(9):979-83 2004

PubMed ID: 15300251

Yan Q, Hunt PR, Frelin L, Vida TA, Pevsner J, Bean AJ, mVps24p functions in EGF receptor sorting/trafficking from the early endosome Experimental cell research304:265-73 2004

PubMed ID: 15707591

Famulski KS, Al-Hijailan RS, Dobler K, Pienkowska M, Al-Mohanna F, Paterson MC, Aberrant sensing of extracellular Ca2+ by cultured ataxia telangiectasia fibroblasts. Oncogene22(3):471-5 2003

PubMed ID: 12545170

Rubbi CP, Milner J, Disruption of the nucleolus mediates stabilization of p53 in response to DNA damage and other stresses. EMBO J22(22):6068-77 2003

PubMed ID: 14609953

Rubbi CP, Milner J, p53 is a chromatin accessibility factor for nucleotide excision repair of DNA damage. EMBO J22(4):975-86 2003

PubMed ID: 12574133

Tuo J, Jaruga P, Rodriguez H, Bohr VA, Dizdaroglu M, Primary fibroblasts of Cockayne syndrome patients are defective in cellular repair of 8-hydroxyguanine and 8-hydroxyadenine resulting from oxidative stress. FASEB J17(6):668-74 2003

PubMed ID: 12665480

Burgess JW, Kiss RS, Zheng H, Zachariah S, Marcel YL, Trypsin-sensitive and lipid-containing sites of the macrophage extracellular matrix bind apolipoprotein A-I and participate in ABCA1-dependent cholesterol efflux. J Biol Chem[epub ahead of print]:668-74 2002

PubMed ID: 12050168

Rubbi CP, Milner J, Analysis of nucleotide excision repair by detection of single-stranded DNA transients. Carcinogenesis22(11):1789-96 2001

PubMed ID: 11698340

Vassiliou G, Benoist F, Lau P, Kavaslar GN, McPherson R, The low density lipoprotein receptor-related protein contributes to selective uptake of high density lipoprotein cholesteryl esters by SW872 liposarcoma cells and primary human adipocytes. J Biol Chem276(52):48823-30 2001

PubMed ID: 11604390

Le Page F, Kwoh EE, Avrutskaya A, Gentil A, Leadon SA, Sarasin A, Cooper PK, Transcription-coupled repair of 8-oxoguanine: requirement for XPG, TFIIH, and CSB and implications for Cockayne syndrome. Cell101(2):159-71 2000

PubMed ID: 10786832

Cooper MP, Balajee AS, Bohr VA, The C-terminal domain of p21 inhibits nucleotide excision repair In vitro and In vivo. Mol Biol Cell10:2119-29 1999

PubMed ID: 10397753

Dianov G, Bischoff C, Sunesen M, Bohr VA, Repair of 8-oxoguanine in DNA is deficient in Cockayne syndrome group B cells. Nucleic Acids Res27(5):1365-8 1999

PubMed ID: 9973627

Piret B, Schoonbroodt S, Piette J, The ATM protein is required for sustained activation of NF-kappaB following DNA damage. Oncogene18(13):2261-71 1999

PubMed ID: 10327072

Wang XW, Zhan Q, Coursen JD, Khan MA, Kontny HU, Yu L, Hollander MC, O'Connor PM, Fornace AJ Jr, Harris CC, GADD45 induction of a G2/M cell cycle checkpoint. Proc Natl Acad Sci U S A96:3706-11 1999

PubMed ID: 10097101

Ford JM, Hanawalt PC, Expression of wild-type p53 is required for efficient global genomic nucleotide excision repair in UV-irradiated human fibroblasts. J Biol Chem272:28073-80 1997

PubMed ID: 9346961

Nouspikel T, Lalle P, Leadon SA, Cooper PK, Clarkson SG, A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. Proc Natl Acad Sci U S A94:3116-21 1997

PubMed ID: 9096355

Lobrich M, Rydberg B, Cooper PK, Repair of x-ray-induced DNA double-strand breaks in specific Not I restriction fragments in human fibroblasts: joining of correct and incorrect ends. Proc Natl Acad Sci U S A92:12050-4 1995

PubMed ID: 8618842

Mirzayans R, Famulski KS, Enns L, Fraser M, Paterson MC, Characterization of the signal transduction pathway mediating gamma ray- induced inhibition of DNA synthesis in human cells: indirect evidence for involvement of calmodulin but not protein kinase C nor p53. Oncogene11:1597-605 1995

PubMed ID: 7478584

Wang XW, Yeh H, Schaeffer L, Roy R, Moncollin V, Egly JM, Wang Z, Freidberg EC, Evans MK, Taffe BG, et al, p53 modulation of TFIIH-associated nucleotide excision repair activity. Nat Genet10:188-95 1995

PubMed ID: 7663514

Galloway AM, Liuzzi M, Paterson MC, Metabolic processing of cyclobutyl pyrimidine dimers and (6-4) photoproducts in UV-treated human cells. Evidence for distinct excision-repair pathways. J Biol Chem269:974-80 1994

PubMed ID: 8288650

Evans MK, Taffe BG, Harris CC, Bohr VA, DNA strand bias in the repair of the p53 gene in normal human and xeroderma pigmentosum group C fibroblasts. Cancer Res53:5377-81 1993

PubMed ID: 8221675

Leadon SA, Cooper PK, Preferential repair of ionizing radiation-induced damage in the transcribed strand of an active human gene is defective in Cockayne syndrome. Proc Natl Acad Sci U S A90(22):10499-503 1993

PubMed ID: 8248136

Mirzayans R, Dietrich K, Paterson MC, Aphidicolin and 1-beta-D-arabinofuranosylcytosine strongly inhibit transcriptionally active DNA repair in normal human fibroblasts. Carcinogenesis14:2621-6 1993

PubMed ID: 8269635

Zhen W, Evans MK, Haggerty CM, Bohr VA, Deficient gene specific repair of cisplatin-induced lesions in Xeroderma pigmentosum and Fanconi's anemia cell lines. Carcinogenesis14:919-24 1993

PubMed ID: 8504485

Nagasawa H, Little JB, Tsang NM, Saunders E, Tesmer J, Strniste GF, Effect of dose rate on the survival of irradiated human skin fibroblasts. Radiat Res132:375-9 1992

PubMed ID: 1475361

Mirzayans R, Paterson MC, Dose-dependent increase in repair of 1-beta-D-arabinofuranosylcytosine-detectable DNA lesions in UV-treated xeroderma pigmentosum (group A) fibroblasts. Mutat Res262(3):151-7 1991

PubMed ID: 2002813

Kantor GJ, Barsalou LS, Hanawalt PC, Selective repair of specific chromatin domains in UV-irradiated cells from xeroderma pigmentosum complementation group C. Mutat Res235:171-80 1990

PubMed ID: 2342504

Milne R, Theolis R Jr, Maurice R, Pease RJ, Weech PK, Rassart E, Fruchart JC, Scott J, Marcel YL, The use of monoclonal antibodies to localize the low density lipoprotein receptor-binding domain of apolipoprotein B. J Biol Chem264:19754-60 1989

PubMed ID: 2479639

Mirzayans R, Smith BP, Paterson MC, Hypersensitivity to cell killing and faulty repair of 1-beta-D- arabinofuranosylcytosine-detectable sites in human (ataxia- telangiectasia) fibroblasts treated with 4-nitroquinoline 1-oxide. Cancer Res49:5523-9 1989

PubMed ID: 2507129

Young BR, Painter RB, Radioresistant DNA synthesis and human genetic diseases. Hum Genet82:113-7 1989

PubMed ID: 2722185

Bender MA, Viola MV, Fiore J, Thompson MH, Leonard RC, Normal G2 chromosomal radiosensitivity and cell survival in the cancer family syndrome [see comments] Cancer Res48:2579-84 1988

PubMed ID: 3356018

Mirzayans R, Liuzzi M, Paterson MC, Methylmethanesulfonate-induced DNA damage and its repair in cultured human fibroblasts: normal rates of induction and removal of alkali-labile sites in xeroderma pigmentosum (group A) cells. Carcinogenesis9(12):2257-63 1988

PubMed ID: 3191570

Nagasawa H, Burke MJ, Little FF, McCone EF, Chan GL, Little JB, Multiple abnormalities in the ultraviolet light response of cultured fibroblasts derived from patients with the basal cell nevus syndrome. Teratog Carcinog Mutagen8:25-33 1988

PubMed ID: 2897722

Nagasawa H, Little JB, Radiosensitivities of ten apparently normal human diploid fibroblast strains to cell killing, G2-phase chromosomal aberrations, and cell cycle delay. Cancer Res48:4535-8 1988

PubMed ID: 3396006

Nagasawa H, Zamansky GB, McCone EF, Arundel CM, Matkin E, Little JB, Spontaneous transformation to anchorage-independent growth of a xeroderma pigmentosum fibroblast cell strain. J Invest Dermatol88:149-53 1987

PubMed ID: 3805755

Bohr VA, Okumoto DS, Hanawalt PC, Survival of UV-irradiated mammalian cells correlates with efficient DNA repair in an essential gene. Proc Natl Acad Sci U S A83:3830-3 1986

PubMed ID: 3459159

Nove J, Little JB, Mayer PJ, Troilo P, Nichols WW, Hypersensitivity of cells from a new chromosomal-breakage syndrome to DNA-damaging agents. Mutat Res163:255-62 1986

PubMed ID: 3785261

Coates PM, Hale DE, Stanley CA, Corkey BE, Cortner JA, Genetic deficiency of medium-chain acyl coenzyme A dehydrogenase: studies in cultured skin fibroblasts and peripheral mononuclear leukocytes. Pediatr Res19:671-6 1985

PubMed ID: 4022673

Hale DE, Batshaw ML, Coates PM, Frerman FE, Goodman SI, Singh I, Stanley CA, Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia. Pediatr Res19:666-71 1985

PubMed ID: 4022672

Mirzayans R, Paterson MC, Waters R, Defective repair of a class of 4NQO-induced alkali-labile DNA lesions in xeroderma pigmentosum complementation group A fibroblasts. Carcinogenesis6:555-9 1985

PubMed ID: 3921271

Nagasawa H, Latt SA, Lalande ME, Little JB, Effects of X-irradiation on cell-cycle progression, induction of chromosomal aberrations and cell killing in ataxia telangiectasia (AT) fibroblasts. Mutat Res148:71-82 1985

PubMed ID: 3969079

Wooten MW, Rudick VL, Rudick MJ, Higgins ML, The effects of proteins secreted by fibroblasts from patients with cystic fibrosis on hamster tracheal explants. In Vitro Cell Dev Biol21:207-15 1985

PubMed ID: 4008434

Donnelly PV, Reed P, DiFerrante N, Synthesis and sulfation of glycosaminoglycans in fibroblasts from a patient with Lowe's syndrome. Connect Tissue Res13:89-98 1984

PubMed ID: 6242399

Mitchel RE, Chan A, Smith BP, Child SD, Paterson MC, The effects of hyperthermia and ionizing radiation in normal and ataxia telangiectasia human fibroblast lines. Radiat Res99(3):627-35 1984

PubMed ID: 6473716

Smith CA, Okumoto DS, Nature of DNA repair synthesis resistant to inhibitors of polymerase alpha in human cells. Biochemistry23:1383-91 1984

PubMed ID: 6426505

Tamm I, Kikuchi T, Wang E, Pfeffer LM, Growth rate of control and beta-interferon-treated human fibroblast populations over the course of their in vitro life span. Cancer Res44:2291-6 1984

PubMed ID: 6722770

Daddona PE, Mitchell BS, Meuwissen HJ, Davidson BL, Wilson JM, Koller CA, Adenosine deaminase deficiency with normal immune function. An acidic enzyme mutation. J Clin Invest72:483-92 1983

PubMed ID: 6603477

Li FP, Little JB, Bech-Hansen NT, Paterson MC, Arlett C, Garnick MB, Mayer RJ, Acute leukemia after radiotherapy in a patient with Turcot's syndrome. Impaired colony formation in skin fibroblast cultures after irradiation. Am J Med74:343-8 1983

PubMed ID: 6572034

Nagasawa H, Little JB, Comparison of kinetics of X-ray-induced cell killing in normal, ataxia telangiectasia and hereditary retinoblastoma fibroblasts. Mutat Res109:297-308 1983

PubMed ID: 6843573

Willecke K, Muller D, Druge PM, Frixen U, Schafer R, Dermietzel R, Hulser D, Isolation and characterization of Chinese hamster cells defective in cell-cell coupling via gap junctions. Exp Cell Res144:95-113 1983

PubMed ID: 6840215

Bech-Hansen NT, Sell BM, Mulvihill JJ, Paterson MC, Association of in vitro radiosensitivity and cancer in a family with acute myelogenous leukemia. Cancer Res41:2046-50 1981

PubMed ID: 6940653

Smith PJ, Paterson MC, Abnormal responses to mid-ultraviolet light of cultured fibroblasts from patients with disorders featuring sunlight sensitivity. Cancer Res41:511-8 1981

PubMed ID: 6256067

Smith PJ, Paterson MC, Kraemer KH, In vitro radiosensitivity in a patient with dermatomyositis and cancer [letter] Lancet1:216-7 1981

PubMed ID: 6109878

Walker IG, Alkaline sucrose sedimentation analysis as an indicator of repair capability of xeroderma pigmentosum fibroblasts for 4-nitroquinoline-1- oxide damage. Carcinogenesis2:691-5 1981

PubMed ID: 6793257

Yu RL, Aronson MM, Nichols WW, High-resolution bands in human fibroblast chromosomes induced by actinomycin D. Cytogenet Cell Genet31:111-4 1981

PubMed ID: 7307580

Daddona PE, Frohman MA, Kelley WN, Human adenosine deaminase and its binding protein in normal and adenosine deaminase-deficient fibroblast cell strains. J Biol Chem255:5681-7 1980

PubMed ID: 7380831

Reiner EJ, Moran TF, High-performance pyrolysis-gas chromatography: potential for differentiating cystic fibrosis cells. J Chromatogr221:371-6 1980

PubMed ID: 7217305

Smith PJ, Paterson MC, Gamma-ray induced inhibition of DNA synthesis in ataxia telangiectasia fibroblasts is a function of excision repair capacity. Biochem Biophys Res Commun97:897-905 1980

PubMed ID: 6162467

Smith PJ, Paterson MC, Defective DNA repair and increased lethality in ataxia telangiectasia cells exposed to 4-nitroquinoline-1-oxide. Nature287:747-9 1980

PubMed ID: 6776412

Vincent RA Jr, Fink AJ, Huang PC, Unscheduled DNA synthesis in cultured ataxia telangiectasia fibroblast- like cells. Mutat Res72:245-9 1980

PubMed ID: 7442694

Hamilton TA, Wada HG, Sussman HH, Human placental cell surface antigens:expression by cultured cells of diverse phenotypic origin. J Supramol Struct11:503-15 1979

PubMed ID: 544928

Paterson, Gamma-ray hypersensitivity and faulty DNA repair in cultured cells from humans exhibiting familial cancer proneness. Proc 6th Int Cong Rad Res, Tokyo(1979) p 484:503-15 1979

PubMed ID: 544928

Sheridan RB 3d, Huang PC, Endonucleolytic activity for gamma-irradiated DNA in normal and ataxia telangiectasia fibroblast cell extracts. Mutat Res63:387-92 1979

PubMed ID: 522879

Williams JI, Friedberg EC, Deoxyribonucleic acid excision repair in chromatin after ultraviolet irradiation of human fibroblasts in culture. Biochemistry18:3965-72 1979

PubMed ID: 486406

Tan YH, Greene AE, Subregional localization of the gene(s) governing the human interferon induced antiviral state in man. J Gen Virol32:153-5 1976

PubMed ID: 182912

Tan YH, Chou EL, Lundh N, Regulation of chromosome 21-directed anti-viral gene(s) as a consequence of age. Nature257:310-2 1975

PubMed ID: 1161032