GM06914
Fibroblast from Skin, Unspecified
Description:
FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Simian Virus 40
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Sample Source
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Fibroblast from Skin, Unspecified
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Race
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Black/African American
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Remarks |
Clinically affected; complementation group A; pancytopenia; lymphocytes show multiple chromosome breaks; untransformed fibroblasts show high frequency of spontaneous chromosome aberrations and extreme sensitivity to cell killing by mitomycin-C; T-antigen positive; SV40 transformed GM01309. |
| Rieckher M, Gallrein C, Alquezar-Artieda N, Bourached-Silva N, Vaddavalli PL, Mares D, Backhaus M, Blindauer T, Greger K, Wiesner E, Pontel LB, Schumacher B, Distinct DNA repair mechanisms prevent formaldehyde toxicity during development, reproduction and aging Nucleic acids research: 2024 |
| PubMed ID: 38894680 |
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| Fu S, Phan AT, Mao D, Wang X, Gao G, Goff SP, Zhu Y, HIV-1 exploits the Fanconi anemia pathway for viral DNA integration Cell reports39:110840 2021 |
| PubMed ID: 35613597 |
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| Kim S, Hwang SK, Lee M, Kwak H, Son K, Yang J, Kim SH, Lee CH, Fanconi anemia complementation group A (FANCA) localizes to centrosomes and functions in the maintenance of centrosome integrity The international journal of biochemistry & cell biology39:110840 2013 |
| PubMed ID: 23806870 |
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| Nakanishi K, Yang YG, Pierce AJ, Taniguchi T, Digweed M, D'Andrea AD, Wang ZQ, Jasin M, Human Fanconi anemia monoubiquitination pathway promotes homologous DNA repair. Proc Natl Acad Sci U S A102(4):1110-5 2005 |
| PubMed ID: 15650050 |
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| Prince PR, Ogburn CE, Moser MJ, Emond MJ, Martin GM, Monnat RJ Jr, Cell fusion corrects the 4-nitroquinoline 1-oxide sensitivity of Werner syndrome fibroblast cell lines. Hum Genet105:132-8 1999 |
| PubMed ID: 10480367 |
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| Kupfer GM, Naf D, Suliman A, Pulsipher M, D'Andrea AD, The Fanconi anaemia proteins, FAA and FAC, interact to form a nuclear complex. Nat Genet17:487-90 1997 |
| PubMed ID: 9398857 |
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| Ruppitsch W, Meisslitzer C, Weirich-Schwaiger H, Klocker H, Scheidereit C, Schweiger M, Hirsch-Kauffmann M, The role of oxygen metabolism for the pathological phenotype of Fanconi anemia. Hum Genet99:710-9 1997 |
| PubMed ID: 9187662 |
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| Jakobs PM, Sahaayaruban P, Saito H, Reifsteck C, Olson S, Joenje H, Moses
RE, Grompe M, Immortalization of four new Fanconi anemia fibroblast cell lines by an improved
procedure. Somat Cell Mol Genet22(2):151-7 1996 |
| PubMed ID: 8782494 |
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| Saito H, Grompe M, Neeley TL, Jakobs PM, Moses RE, Fanconi anemia cells have a normal gene structure for topoisomerase I. Hum Genet93:583-6 1994 |
| PubMed ID: 8168839 |
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| Saito H, Moses RE, Immortalization of Werner syndrome and progeria fibroblasts Experimental cell research192:373-9 1991 |
| PubMed ID: 1671011 |
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| Sun Y, Moses RE, Reactivation of psoralen-reacted plasmid DNA in Fanconi anemia, xeroderma pigmentosum, and normal human fibroblast cells. Somat Cell Mol Genet17:229-38 1991 |
| PubMed ID: 2047939 |
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| Boyle JM, Hey Y, Guerts van Kessel A, Fox M, Assignment of ecto-5'-nucleotidase to human chromosome 6. Hum Genet81:88-92 1988 |
| PubMed ID: 2848759 |
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| Wood CM, Timme TL, Hurt MM, Brinkley BR, Ledbetter DH, Moses RE, Transformation of DNA repair-deficient human diploid fibroblasts with a simian virus 40 plasmid. Exp Cell Res169:543-53 1987 |
| PubMed ID: 3030788 |
| Split Ratio |
1:8 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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