GM00646
Fibroblast from Skin, Arm
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
Chromosome Abnormalities |
| 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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White
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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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| Passage Frozen |
13 |
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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; homozygous; decreased colony-forming ability and cell survival following exposure to mitomycin-C; also referred to as subject C25 in publication by Elmore and Swift (1975, PMID 1214005); heterozygous father is GM02977. |
| 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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| 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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| Elmore E, Swift M, Growth of cultured cells from patients with Fanconi anemia Journal of cellular physiology87:229-33 1975 |
| PubMed ID: 1214005 |
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| Swift M, Fanconi's anaemia in the genetics of neoplasia Nature230:370-3 1971 |
| PubMed ID: 4927726 |
| Passage Frozen |
13 |
| 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 |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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