Description:
FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG
X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 9; XRCC9
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases Chromosome Abnormalities |
Class |
Syndromes with Increased Chromosome Breakage |
Cell Type
|
Fibroblast
|
Tissue Type
|
Skin
|
Transformant
|
Untransformed
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
ISCN
|
46,XY[18]
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
11 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
|
Remarks |
Fanconi Anemia complementation group G; clinically affected |
Wilson PF, Nham PB, Urbin SS, Hinz JM, Jones IM, Thompson LH, Inter-individual variation in DNA double-strand break repair in human fibroblasts before and after exposure to low doses of ionizing radiation Mutation research683:91-7 2009 |
PubMed ID: 19896956 |
|
Berger NA, Berger SJ, Catino DM, Abnormal NAD+ levels in cells from patients with Fanconi's anaemia. Nature299:271-3 1982 |
PubMed ID: 6810184 |
|
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 |
|
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 484:511-8 1979 |
PubMed ID: 6256067 |
Passage Frozen |
11 |
Split Ratio |
1:5 |
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 |
- |
|
|