GM16635
Fibroblast from Skin, Unspecified
Description:
FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG
X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 9; XRCC9
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Syndromes with Increased Chromosome Breakage |
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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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SV40 plasmid vector pSV7
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Sample Source
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Fibroblast from Skin, Unspecified
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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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73~77,XXX,t(1;15)(1pter->1p10::15q10->15qter;1qter->1q10::15p10->15pter),-2,add(2)(?::p25->qter),+3,-4,add(4)(?::p14->qter),del(4)(q31.3::),-5,-7,add(7)(?::p15->qter), add(11)(pter->q11.2::?),+12,add(12)(?::p12->qter),add(13)(?::p11.1->qter),+14,-15,-16,+17,-18,-22,+7~9mar[cp4]*
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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; line PD352.T; complementation group G; pSV7 transformed fibroblast (PD352.F) (method described in Jacobs et al Somatic Cell Mol Genet 22:151-157, 1996); immortalized cell line (>200 population doublings); radial anomalies; café au lait spots; skin pigmentation; thrombocytopenia at age 9; chromosomal hypersensitivity to mitomycin D and diepoxybutane; transfection of FANC G gene, but not FANC A or C genes, corrects hypersensitive cell phenotype. |
| Wang R, Lenoir WF, Wang C, Su D, McLaughlin M, Hu Q, Shen X, Tian Y, Klages-Mundt N, Lynn E, Wood RD, Chen J, Hart T, Li L, DNA polymerase ? compensates for Fanconi anemia pathway deficiency by countering DNA replication stress Proceedings of the National Academy of Sciences of the United States of America117:33436-33445 2021 |
| PubMed ID: 33376220 |
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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 |
| Split Ratio |
1:6 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
MEM (Eagle) Alpha Modification with nucleosides 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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