GM00368
Fibroblast from Skin, Arm
Description:
FANCONI ANEMIA COMPLEMENTATION GROUP UNDETERMINED
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
| Class |
Syndromes with Increased Chromosome Breakage |
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Biopsy Source
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Arm
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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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Untransformed
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Sample Source
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Fibroblast from Skin, Arm
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Race
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Black/African American
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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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ISCN
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46,XY
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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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| Passage Frozen |
11 |
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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; homozygous; multiple chromosome breaks; increased chromosome aberrations following treatment with mitomycin-C; also referred to as subject C17 in publication by Elmore and Swift (1975, PMID 1214005). |
| Fu KL, Thuss PC, Fujino T, Digweed M, Liu JM, Walsh CE, Retroviral gene transfer for the assignment of Fanconi anemia (FA) patients to a FA complementation group. Hum Genet102:166-9 1998 |
| PubMed ID: 9521584 |
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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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| Berger NA, Berger SJ, Catino DM, Abnormal NAD+ levels in cells from patients with Fanconi's anaemia. Nature299:271-3 1982 |
| PubMed ID: 6810184 |
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| Zakrzewski S, Sperling K, Analysis of heterogeneity in Fanconi's anemia patients of different ethnic origin Human genetics62:321-3 1982 |
| PubMed ID: 6819986 |
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| 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 |
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| Gupta RS, Goldstein S, Diphtheria toxin resistance in human fibroblast cell strains from normal and cancer-prone individuals. Mutat Res73:331-8 1980 |
| PubMed ID: 7464842 |
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| Raj AS, Heddle JA, The effect of superoxide dismutase, catalase and L-cysteine on spontaneous and on mitomycin C induced chromosomal breakage in Fanconi's anemia and normal fibroblasts as measured by the micronucleus method. Mutat Res78:59-66 1980 |
| PubMed ID: 6991929 |
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| 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 484:59-66 1979 |
| PubMed ID: 6991929 |
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| Lubiniecki AS, Blattner WA, Dosik H, Sun C, Fraumeni JF Jr, SV40 T-antigen expression in skin fibroblasts from clinically normal individuals and from ten cases of Fanconi anemia. Am J Hematol2:33-40 1977 |
| PubMed ID: 194477 |
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| Elmore E, Swift M, Growth of cultured cells from patients with Fanconi anemia Journal of cellular physiology87:229-33 1975 |
| PubMed ID: 1214005 |
| Passage Frozen |
11 |
| Split Ratio |
1:2 |
| 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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