GM03440

GM03440 Fibroblast from Skin, Leg

Description:

APPARENTLY HEALTHY INDIVIDUAL

Affected:

No

Sex:

Male

Age:

20 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Apparently Healthy Collection

Biopsy Source

Leg

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

Fibroblast from Skin, Leg

Race

White

Country of Origin

USA

Family Member

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Skin biopsy (leg); 46,XY

Characterizations

PDL at Freeze

4.33

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

INSULIN-LIKE GROWTH FACTOR I AND II

Yee et al (Cancer Res 48:6691-6696,1988) observed that this normal fibroblast culture produced detectable levels of insulin-like growth factor II mRNA.

Phenotypic Data

Remarks

Skin biopsy (leg); 46,XY

Publications

Batzios S, Tal G, DiStasio AT, Peng Y, Charalambous C, Nicolaides P, Kamsteeg EJ, Korman SH, Mandel H, Steinbach PJ, Yi L, Fair SR, Hester ME, Drousiotou A, Kaler SG, Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter Human molecular genetics: 2022

PubMed ID: 35913762

Cencelli G, Pacini L, De Luca A, Messia I, Gentile A, Kang Y, Nobile V, Tabolacci E, Jin P, Farace MG, Bagni C, Age-Dependent Dysregulation of APP in Neuronal and Skin Cells from Fragile X Individuals Cells12: 2022

PubMed ID: 36899894

Malle L, Martin-Fernandez M, Buta S, Richardson A, Bush D, Bogunovic D, Excessive negative regulation of type I interferon disrupts viral control in individuals with Down syndrome Immunity55:2074-2084.e5 2022

PubMed ID: 36243008

Oh YM, Lee SW, Kim WK, Chen S, Church VA, Cates K, Li T, Zhang B, Dolle RE, Dahiya S, Pak SC, Silverman GA, Perlmutter DH, Yoo AS, Age-related Huntington's disease progression modeled in directly reprogrammed patient-derived striatal neurons highlights impaired autophagy Nature neuroscience25:1420-1433 2022

PubMed ID: 36303071

Cheng A, Tse KH, Chow HM, Gan Y, Song X, Ma F, Qian YXY, She W, Herrup K, ATM loss disrupts the autophagy-lysosomal pathway Autophagy25:1420-1433 2020

PubMed ID: 32757690

Yang SJ, Lipnick SL, Makhortova NR, Venugopalan S, Fan M, Armstrong Z, Schlaeger TM, Deng L, Chung WK, O'Callaghan L, Geraschenko A, Whye D, Berndl M, Hazard J, Williams B, Narayanaswamy A, Ando DM, Nelson P, Rubin LL, Applying Deep Neural Network Analysis to High-Content Image-Based Assays SLAS discovery : advancing life sciences R & D24:829-841 2019

PubMed ID: 31284814

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 Biology19:829-841 2018

PubMed ID: 30567591

Gudmundsson B1,2,3, Thormar HG1,3, Sigurdsson A1, Dankers W1, Steinarsdottir M2, Hermanowicz S1,4, Sigurdsson S1,4, Olafsson D1,5, Halldorsdottir AM5, Meyn S6,7,8, Jonsson JJ1,2., Northern lights assay: a versatile method for comprehensive detection of DNA damage Nucleic Acids Research19:829-841 2018

PubMed ID: 30053193

Jasoliya M, Sacca F, Sahdeo S, Chedin F, Pane C, Brescia Morra V, Filla A, Pook M, Cortopassi G, Dimethyl fumarate dosing in humans increases frataxin expression: A potential therapy for Friedreich's Ataxia PloS one14:e0217776 2018

PubMed ID: 31158268

Larrieu D1, Viré E2, Robson S2, Breusegem SY2, Kouzarides T2, Jackson SP1., Inhibition of the acetyltransferase NAT10 normalizes progeric and aging cells by rebalancing the Transportin-1 nuclear import pathway Science Signaling11:e0217776 2018

PubMed ID: 29970603

Readhead B, Hartley BJ, Eastwood BJ, Collier DA, Evans D, Farias R, He C, Hoffman G, Sklar P, Dudley JT, Schadt EE, Savic R, Brennand KJ, Expression-based drug screening of neural progenitor cells from individuals with schizophrenia Nature communications9:4412 2018

PubMed ID: 30356048

Tousley A, Iuliano M, Weisman E, Sapp E, Richardson H, Vodicka P, Alexander J, Aronin N, DiFiglia M, Kegel-Gleason KB, Huntingtin associates with the actin cytoskeleton and a-actinin isoforms to influence stimulus dependent morphology changes PloS one14:e0212337 2018

PubMed ID: 30768638

Jones Iv AR, Coleman EL, Husni NR, Deeney JT, Raval F, Steenkamp D, Dooms H, Nikolajczyk BS, Corkey BE, Type 1 diabetes alters lipid handling and metabolism in human fibroblasts and peripheral blood mononuclear cells PloS one12:e0188474 2017

PubMed ID: 29206239

Cuajungco MP, Basilio LC, Silva J, Hart T, Tringali J, Chen CC, Biel M, Grimm C, Cellular zinc levels are modulated by TRPML1-TMEM163 interaction Traffic (Copenhagen, Denmark)15:1247-65 2014

PubMed ID: 25130899

Eichelsdoerfer JL1, Evans JA, Slaugenhaupt SA, Cuajungco MP., Zinc dyshomeostasis is linked with the loss of mucolipidosis IV-associated TRPML1 ion channel. J Biol Chem285(45):34304-8 2010

PubMed ID: 20864526

Li X, Standley C, Sapp E, Valencia A, Qin ZH, Kegel KB, Yoder J, Comer-Tierney LA, Esteves M, Chase K, Alexander J, Masso N, Sobin L, Bellve K, Tuft R, Lifshitz L, Fogarty K, Aronin N, DiFiglia M, Mutant huntingtin impairs vesicle formation from recycling endosomes by interfering with Rab11 activity Molecular and cellular biology29:6106-16 2009

PubMed ID: 19752198

Wilson PF, Nagasawa H, Warner CL, Fitzek MM, Little JB, Bedford JS, Radiation Sensitivity of Primary Fibroblasts from Hereditary Retinoblastoma Family Members and Some Apparently Normal Controls: Colony Formation Ability during Continuous Low-Dose-Rate Gamma Irradiation Radiation research169:483-94 2008

PubMed ID: 18439048

Kyng KJ, May A, Stevnsner T, Becker KG, Kølvrå S, Bohr VA, Gene expression responses to DNA damage are altered in human aging and in Werner Syndrome Oncogene24:5026-42 2005

PubMed ID: 15897889

Ha L, Ceryak S, Patierno SR, Generation of S phase-dependent DNA double strand breaks by Cr(VI) exposure: involvement of ATM in Cr(VI) induction of {gamma}-H2AX. CarcinogenesisEpub ahead of print:5026-42 2004

PubMed ID: 15284180

Sivanandam AS, Mohan S, Kita H, Kapur S, Chen ST, Linkhart TA, Bagi G, Baylink DJ, Qin X, Studies on regulation of IGF (insulin-like growth factor)-binding protein (IGFBP) 4 proteolysis by pregnancy-associated plasma protein-A (PAPP-A) in cells treated with phorbol ester The Biochemical journal379:57-64 2004

PubMed ID: 14705967

Ha L, Ceryak S, Patierno SR, Chromium (VI) activates ataxia telangiectasia mutated (ATM) protein. Requirement of ATM for both apoptosis and recovery from terminal growth arrest. J Biol Chem278(20):17885-94 2003

PubMed ID: 12637545

Kyng KJ, May A, Kolvraa S, Bohr VA, Gene expression profiling in Werner syndrome closely resembles that of normal aging. Proc Natl Acad Sci U S A100(21):12259-64 2003

PubMed ID: 14527998

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

Chen BK, Overgaard MT, Bale LK, Resch ZT, Christiansen M, Oxvig C, Conover CA, Molecular regulation of the IGF-binding protein-4 protease system in human fibroblasts: identification of a novel inducible inhibitor. Endocrinology143(4):1199-205 2002

PubMed ID: 11897673

Davis K, Tomkins DJ, Rainbow AJ, Roberts syndrome fibroblasts showing cisplatin hypersensitivity have normal host cell reactivation of cisplatin-treated adenovirus and normal capacity of cisplatin-treated cells for adenovirus DNA synthesis. Somat Cell Mol Genet22:393-402 1996

PubMed ID: 9039848

Thurston VC, Zinkowski RP, Binder LI, Tau as a nucleolar protein in human nonneural cells in vitro and in vivo. Chromosoma105:20-30 1996

PubMed ID: 8662255

Borsi L, Balza E, Gaggero B, Allemanni G, Zardi L, The alternative splicing pattern of the tenascin-C pre-mRNA is controlled by the extracellular pH. J Biol Chem270:6243-5 1995

PubMed ID: 7534307

Evans HH, Ricanati M, Horng MF, Jiang Q, Mencl J, Olive P, DNA double-strand break rejoining deficiency in TK6 and other human B-lymphoblast cell lines. Radiat Res134:307-15 1993

PubMed ID: 8316623

Pienta KJ, Getzenberg RH, Coffey DS, Characterization of nuclear morphology and nuclear matrices in ageing human fibroblasts. Mech Ageing Dev62:13-24 1992

PubMed ID: 1560681

Markello TC, Guo J, Gahl WA, High-performance liquid chromatography of lipids for the identification of human metabolic disease. Anal Biochem198:368-74 1991

PubMed ID: 1799224

Miao E, Wilson SR, Javitt NB, Cholesterol metabolism. Effect of 26-thiacholesterol and 26- aminocholesterol, analogues of 26-hydroxycholesterol, on cholesterol synthesis and low-density-lipoprotein-receptor binding. Biochem J255:1049-52 1988

PubMed ID: 2850793

Peterson C, Ratan RR, Shelanski ML, Goldman JE, Altered response of fibroblasts from aged and Alzheimer donors to drugs that elevate cytosolic free calcium. Neurobiol Aging9:261-6 1988

PubMed ID: 3398992

Yee D, Cullen KJ, Paik S, Perdue JF, Hampton B, Schwartz A, Lippman ME, Rosen N, Insulin-like growth factor II mRNA expression in human breast cancer. Cancer Res48:6691-6 1988

PubMed ID: 3180080

Peterson C, Gibson GE, Blass JP, Altered calcium uptake in cultured skin fibroblasts from patients with Alzheimer's disease [letter] N Engl J Med312:1063-5 1985

PubMed ID: 3982463

Saito M, Saito M, Rosenberg A, Influence of monovalent cation transport on anabolism of glycosphingolipids in cultured human fibroblasts. Biochemistry24:3054-9 1985

PubMed ID: 4016085

Betsholtz C, Westermark B, Growth factor-induced proliferation of human fibroblasts in serum-free culture depends on cell density and extracellular calcium concentration. J Cell Physiol118:203-10 1984

PubMed ID: 6607257

Saito M, Saito M, Rosenberg A, Action of monensin, a monovalent cationophore, on cultured human fibroblasts: evidence that it induces high cellular accumulation of glucosyl- and lactosylceramide (gluco- and lactocerebroside). Biochemistry23:1043-6 1984

PubMed ID: 6712936

Kinsella TJ, Mitchell JB, McPherson S, Russo A, Tietze F, In vitro X-ray sensitivity in ataxia telangiectasis homozygote and heterozygote skin fibroblasts under oxic and hypoxic conditions. Cancer Res42:3950-6 1982

PubMed ID: 7104995

PubMed ID: 29691375