GM00646
Fibroblast from Skin, Arm
Description:
FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Syndromes with Increased Chromosome Breakage |
|
Biopsy Source
|
Arm
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Arm
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
13 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| 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 |
| |
| Berger NA, Berger SJ, Catino DM, Abnormal NAD+ levels in cells from patients with Fanconi's anaemia. Nature299:271-3 1982 |
| PubMed ID: 6810184 |
| |
| Elmore E, Swift M, Growth of cultured cells from patients with Fanconi anemia Journal of cellular physiology87:229-33 1975 |
| PubMed ID: 1214005 |
| |
| 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 |
- |
|
|