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GM00969 Fibroblast from Skin, Unspecified

Description:

APPARENTLY HEALTHY INDIVIDUAL

Affected:

No

Sex:

Female

Age:

2 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Images
  • Culture Protocols

Overview

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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 White
Country of Origin USA
Relation to Proband proband
Confirmation Karyotypic analysis and Case history
Species Homo sapiens
Common Name Human
Remarks Skin biopsy; 46,XX; 6% of cells show random chromosome loss and 2% showed random chromosomal aberrations.

Characterizations

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PDL at Freeze 6.1
Passage Frozen 13
 
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

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Remarks Skin biopsy; 46,XX; 6% of cells show random chromosome loss and 2% showed random chromosomal aberrations.

Publications

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Bobo TA, Robinson M, Tofade C, Sokolski-Papkov M, Nichols P, Vorobiov S, Fu H, AAV gene replacement therapy for treating MPS IIIC: Facilitating bystander effects via EV-mRNA cargo Journal of extracellular vesicles13:e12464 2024
PubMed ID: 38961538
 
Lee SE, Baxter LL, Duran MI, Morris SD, Mosley IA, Fuentes KA, Pennings JLA, Guedj F, Bianchi DW, Analysis of genotype effects and inter-individual variability in iPSC-derived trisomy 21 neural progenitor cells Human molecular genetics13:e12464 2024
PubMed ID: 39533854
 
De Serres-Bérard T, Jauvin D, Puymirat J, Chahine M, Generation of induced pluripotent stem cell lines from pediatric patients with congenital myotonic dystrophy (CBRCULi012-A and CBRCULi013-A) and age-matched controls (CBRCULi010-A and CBRCULi011-A) Stem cell research72:103234 2023
PubMed ID: 37871474
 
Morimoto M, Bhambhani V, Gazzaz N, Davids M, Sathiyaseelan P, Macnamara EF, Lange J, Lehman A, Zerfas PM, Murphy JL, Acosta MT, Wang C, Alderman E, Undiagnosed Diseases Network E, Reichert S, Thurm A, Adams DR, Introne WJ, Gorski SM, Boerkoel CF, Gahl WA, Tifft CJ, Malicdan MCV, Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment NPJ genomic medicine8:4 2022
PubMed ID: 36765070
 
Panagaki T, Pecze L, Randi EB, Nieminen AI, Szabo C, Role of the cystathionine ß-synthase / H Redox biology55:102416 2022
PubMed ID: 35921774
 
Scotto Rosato A, Krogsaeter EK, Jaslan D, Abrahamian C, Montefusco S, Soldati C, Spix B, Pizzo MT, Grieco G, Böck J, Wyatt A, Wünkhaus D, Passon M, Stieglitz M, Keller M, Hermey G, Markmann S, Gruber-Schoffnegger D, Cotman S, Johannes L, Crusius D, Boehm U, Wahl-Schott C, Biel M, Bracher F, De Leonibus E, Polishchuk E, Medina DL, Paquet D, Grimm C, TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann-Pick type C1, and Batten disease EMBO molecular medicine14:e15377 2022
PubMed ID: 35929194
 
Bodnar B, Zhang Y, Liu J, Lin Y, Wang P, Wei Z, Saribas S, Zhu Y, Li F, Wang X, Yang W, Li Q, Ho WZ, Hu W, Novel Scalable and Simplified System to Generate Microglia-Containing Cerebral Organoids From Human Induced Pluripotent Stem Cells Frontiers in cellular neuroscience15:682272 2021
PubMed ID: 34290591
 
Fafián-Labora JA, O'Loghlen A, NF-?B/IKK activation by small extracellular vesicles within the SASP Aging cell20:e13426 2021
PubMed ID: 34187082
 
Fafián-Labora JA, Rodríguez-Navarro JA, O'Loghlen A, Small Extracellular Vesicles Have GST Activity and Ameliorate Senescence-Related Tissue Damage Cell metabolism20:e13426 2020
PubMed ID: 32574561
 
Marentette JO, Anderson CC, Prutton KM, Jennings EQ, Rauniyar AK, Galligan JJ, Roede JR, Trisomy 21 impairs PGE2 production in dermal fibroblasts Prostaglandins & other lipid mediators153:106524 2020
PubMed ID: 33418267
 
Park JW, Han SB, Hah J, Lee G, Kim JK, Kim SH, Kim DH, Biological Aging Modulates Cell Migration via Lamin A/C-Dependent Nuclear Motion Micromachines11:106524 2020
PubMed ID: 32847135
 
Pascua-Maestro R, Corraliza-Gomez M, Fadrique-Rojo C, Ledesma MD, Schuchman EH, Sanchez D, Ganfornina MD, Apolipoprotein D-mediated preservation of lysosomal function promotes cell survival and delays motor impairment in Niemann-Pick type A disease Neurobiology of disease11:105046 2020
PubMed ID: 32798728
 
Somuncu B, Keskin S, Antmen FM, Saglican Y, Ekmekcioglu A, Ertuzun T, Tuna MB, Obek C, Wilson DM, Ince U, Kural AR, Muftuoglu M, Non-muscle invasive bladder cancer tissues have increased base excision repair capacity Scientific reports10:16371 2020
PubMed ID: 33004944
 
Thulasi Raman SN, Latreille E, Gao J, Zhang W, Wu J, Russell MS, Walrond L, Cyr T, Lavoie JR, Safronetz D, Cao J, Sauve S, Farnsworth A, Chen W, Shi PY, Wang Y, Wang L, Rosu-Myles M, Li X, Dysregulation of Ephrin Receptor and PPAR signaling pathways in Neural Progenitor Cells Infected by Zika Virus Emerging microbes & infections10:1-50 2020
PubMed ID: 32873194
 
Hwang S, Williams JF, Kneissig M, Lioudyno M, Rivera I, Helguera P, Busciglio J, Storchova Z, King MC, Torres EM, Suppressing Aneuploidy-Associated Phenotypes Improves the Fitness of Trisomy 21 Cells Cell reports29:2473-2488.e5 2019
PubMed ID: 31747614
 
Ahmed AA1, Smoczer C1, Pace B1, Patterson D2,3, Cress Cabelof D1., Loss of DNA polymerase β induces cellular senescence Environmental and Molecular Mutagenesis 29:2473-2488.e5 2018
PubMed ID: 29968395
 
Zhang X, Chen W, Gao Q, Yang J, Yan X, Zhao H, Su L, Yang M, Gao C, Yao Y, Inoki K, Li D, Shao R, Wang S, Sahoo N, Kudo F, Eguchi T, Ruan B, Xu H, Rapamycin directly activates lysosomal mucolipin TRP channels independent of mTOR PLoS biology17:e3000252 2018
PubMed ID: 31112550
 
Drouin-Ouellet J, Pircs K, Barker RA, Jakobsson J, Parmar M, Direct Neuronal Reprogramming for Disease Modeling Studies Using Patient-Derived Neurons: What Have We Learned? Frontiers in neuroscience11:530 2017
PubMed ID: 29033781
 
Zhong XZ1, Zou Y1, Sun X1,2, Dong G1, Cao Q1, Pandey A3, Rainey JK3,4, Zhu X2, Dong XP5., Inhibition of Transient Receptor Potential Channel Mucolipin-1 (TRPML1) by Lysosomal Adenosine Involved in Severe Combined Immunodeficiency Diseases. J Biol Chem.292(8):3445-3455 2017
PubMed ID: 28087698
 
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
 
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
 
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
 
Sohar I, Sleat DE, Jadot M, Lobel P, Biochemical characterization of a lysosomal protease deficient in classical late infantile neuronal ceroid lipofuscinosis (LINCL) and development of an enzyme-based assay for diagnosis and exclusion of LINCL in human specimens and animal models. J Neurochem73:700-11 1999
PubMed ID: 10428067
 
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
 
Sanford KK, Parshad R, Price FM, Tarone RE, Benedict WF, Cytogenetic responses to G2 phase x-irradiation of cells from retinoblastoma patients. Cancer Genet Cytogenet88:43-8 1996
PubMed ID: 8630978
 
Ahern-Rindell AJ, Murnane RD, Prieur DJ, Interspecific genetic complementation analysis of human and sheep fibroblasts with beta-galactosidase deficiency. Somat Cell Mol Genet15:525-33 1989
PubMed ID: 2512653
 
Burns MA, Tomkins DJ, Hypersensitivity to mitomycin C cell-killing in Roberts syndrome fibroblasts with, but not without, the heterochromatin abnormality. Mutat Res216:243-9 1989
PubMed ID: 2507910
 
Bennett CB, Rainbow AJ, Delayed expression of enhanced reactivation and decreased mutagenesis of UV-irradiated adenovirus in UV-irradiated ataxia telangiectasia fibroblasts. Mutagenesis3:389-95 1988
PubMed ID: 3070272
 
Bennett CB, Rainbow AJ, Enhanced reactivation and mutagenesis of UV-irradiated adenovirus in normal human fibroblasts. Mutagenesis3:157-64 1988
PubMed ID: 3288839
 
Hutchins JT, Reading CL, Giavazzi R, Hoaglund J, Jessup JM, Distribution of mono-, di, and tri-O-acetylated sialic acids in normal and neoplastic colon. Cancer Res48:483-9 1988
PubMed ID: 3335016
 
Bols NC, Mosser DD, Boliska SA, Transfer of purine metabolites between cells through the medium and via cell contacts in cocultures of HGPRT+ and HGPRT- cells. Exp Cell Res173:206-17 1987
PubMed ID: 3678380
 
Butler JD, Key JD, Hughes BF, Tietze F, Raiford DS, Reed GF, Brannon PM, Spielberg SP, Schulman JD, Glutathione metabolism in normal and cystinotic fibroblasts. Exp Cell Res172:158-67 1987
PubMed ID: 2888673
 
Penner JD, Prieur DJ, A comparative study of the lesions in cultured fibroblasts of humans and four species of animals with Chediak-Higashi syndrome. Am J Med Genet28:445-54 1987
PubMed ID: 3425619
 
Penner JD, Prieur DJ, Interspecific genetic complementation analysis with fibroblasts from humans and four species of animals with Chediak-Higashi syndrome. Am J Med Genet28:455-70 1987
PubMed ID: 3322007
 
Shaham M, Adler B, Ganguly S, Chaganti RS, Transfection of normal human and Chinese hamster DNA corrects diepoxybutane-induced chromosomal hypersensitivity of Fanconi anemia fibroblasts. Proc Natl Acad Sci U S A84:5853-7 1987
PubMed ID: 3475705
 
Straus DS, Mohandas T, Growth suppression of hybrids between transformed cells and normal fibroblasts in serum-free medium: correlation with retention of human chromosomes. Somat Cell Mol Genet13:587-96 1987
PubMed ID: 3478814
 
Jeeves WP, Rainbow AJ, An aberration in gamma-ray-enhanced reactivation of irradiated adenovirus in ataxia telangiectasia fibroblasts. Carcinogenesis7:381-7 1986
PubMed ID: 3948323
 
Sephel GC, Davidson JM, Elastin production in human skin fibroblast cultures and its decline with age. J Invest Dermatol86:279-85 1986
PubMed ID: 3745952
 
Shireman RB, Williams D, Remsen JF, Uptake of [3H]vitamin D3 from low and high density lipoproteins by cultured human fibroblasts. Proc Soc Exp Biol Med181:392-8 1986
PubMed ID: 3003757
 
Leone A, Pavlakis GN, Hamer DH, Menkes' disease: abnormal metallothionein gene regulation in response to copper. Cell40:301-9 1985
PubMed ID: 3967294
 
Saito M, Rosenberg A, The fate of glucosylceramide (glucocerebroside) in genetically impaired (lysosomal beta-glucosidase deficient) Gaucher disease diploid human fibroblasts. J Biol Chem260:2295-300 1985
PubMed ID: 3919000
 
Packman S, Caswell N, Gonzalez-Rios MC, Kadlecek T, Cann H, Rassin D, McKay C, Acetyl CoA carboxylase in cultured fibroblasts: differential biotin dependence in the two types of biotin-responsive multiple carboxylase deficiency. Am J Hum Genet36:80-92 1984
PubMed ID: 6141728
 
Shireman RB, Coffey MT, Relationships between composition and cellular uptake of lipoproteins from normal and hyperlipemic swine. J Nutr114:2373-82 1984
PubMed ID: 6502280
 
Shireman RB, Mace L, Davidson S, Effects of dichloroacetate and glyoxylate on low density lipoprotein uptake and on growth of cultured fibroblasts. Proc Soc Exp Biol Med175:420-3 1984
PubMed ID: 6324220
 
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
 
Murray PK, Habbersett MC, Meurer RD, Trypanosoma cruzi: efficacy of the 2-substituted, 5-nitroimidazoles, MK- 436 and L634,549, in tissue culture and mice. Am J Trop Med Hyg32:1242-50 1983
PubMed ID: 6418014
 
Schmutz SM, Simpson NE, Suggested assignment of peptidase S (PEPS) to 4p11-4q12 by exclusion using gene dosage, accounting for variability in fibroblasts. Hum Genet64:134-8 1983
PubMed ID: 6350155
 
Shireman RB, Remsen JF, Imipramine associations with plasma components and its uptake by cultured human cells. Life Sci33:2165-71 1983
PubMed ID: 6645795
 
Van Keuren, Proteins affected by chromosome 21 and ageing in vitro (from Gene Expression in Normal and Transformed Cells, Plenum Pub Corp; Celis & Bravo, Eds) "Gene Exp in Norm & Trans Cells"1983,pp349:2165-71 1983
PubMed ID: 6645795
 
Gitelman, Regional mapping of the loci for hexokinase-1(HK1) and glutamic oxaloacetic transaminase-1(GOT1) on chromosome 10 by gene dosage studies. Cytogenet Cell Genet32:281 (1982):2165-71 1982
PubMed ID: 6645795
 
Rainbow AJ, Howes M, A deficiency in the repair of UV and gamma-ray damaged DNA in fibroblasts from Cockayne's syndrome. Mutat Res93:235-47 1982
PubMed ID: 7062933
 
Barrett SF, Tarone RE, Moshell AN, Ganges MB, Robbins JH, The post-UV colony-forming ability of normal fibroblast strains and of the xeroderma pigmentosum group G strain. J Invest Dermatol76:59-62 1981
PubMed ID: 7462668
 
Scudiero DA, Meyer SA, Clatterbuck BE, Tarone RE, Robbins JH, Hypersensitivity to N-methyl-N'-nitro-N-nitrosoguanidine in fibroblasts from patients with Huntington disease, familial dysautonomia, and other primary neuronal degenerations. Proc Natl Acad Sci U S A78:6451-5 1981
PubMed ID: 6458814
 
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
 
Tietze F, Butler JD, Elevated cystine levels in cultured skin fibroblasts from patients with I-cell disease. Pediatr Res13:1350-5 1979
PubMed ID: 523195

External Links

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dbSNP dbSNP ID: 20057
GEO GEO Accession No: GSM1195654
GEO Accession No: GSM1195655
GEO Accession No: GSM1195656
GEO Accession No: GSM1195657
GEO Accession No: GSM1195658
GEO Accession No: GSM1195659
GEO Accession No: GSM1195660
GEO Accession No: GSM1195661
GEO Accession No: GSM1195662
GEO Accession No: GSM1316971
GEO Accession No: GSM1317008

Images

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View karyotype 
karyotype 

Culture Protocols

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Passage Frozen 13
Split Ratio 1:2
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Supplement -
Pricing
Commercial/For-profit:
$373.00USD
Academic/Non-profit/Government:
$216.00USD
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