GM01309
Fibroblast from Skin, Thorax/abdomen
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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Thorax/abdomen
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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, Thorax/abdomen
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Race
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Black/African American
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Country of Origin
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USA
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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 |
6 |
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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 |
Complementation group A; lymphocytes showed multiple chromosome breaks; clinically affected; high frequency of spontaneous chromosomal aberrations and extreme sensitivity to cell killing by mytomycin-C; see GM06914A SV40 Transformed Fibroblast |
| Duba HC, Weirich HG, Weirich-Schwaiger H, Utermann B, Nachbaur D, Solder E, Utermann G, Chromosomal instability in a woman with infertility and two unaffected brothers: a new familial chromosomal breakage syndrome? Hum Genet100:431-40 1997 |
| PubMed ID: 9272168 |
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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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| Davis K, Tomkins DJ, Rainbow AJ, Roberts syndrome fibroblasts showing cisplatin hypersensitivity have normal host cell reactivation of cisplatin-treated adenovirus and normal capacity of cisplatin-treated cells for adenovirus DNA synthesis. Somat Cell Mol Genet22:393-402 1996 |
| PubMed ID: 9039848 |
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| 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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| Verlander PC, Lin JD, Udono MU, Zhang Q, Gibson RA, Mathew CG, Auerbach AD, Mutation analysis of the Fanconi anemia gene FACC. Am J Hum Genet54:595-601 1994 |
| PubMed ID: 8128956 |
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| Arwert F, Rooimans MA, Westerveld A, Simons JW, Zdzienicka MZ, The Chinese hamster cell mutant V-H4 is homologous to Fanconi anemia (complementation group A). Cytogenet Cell Genet56:23-6 1991 |
| PubMed ID: 1900747 |
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| Nagasawa H, Little JB, Suppression of cytotoxic effect of mitomycin-C by superoxide dismutase in Fanconi's anemia and dyskeratosis congenita fibroblasts. Carcinogenesis4:795-9 1983 |
| PubMed ID: 6409437 |
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| Zamansky GB, Little JB, Survival of 60Co-irradiated herpes simplex virus in 15 human diploid fibroblast cell strains. Mutat Res94:245-55 1982 |
| PubMed ID: 6287252 |
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| Moses RE, Beaudet AL, Apurinic DNA endonuclease activities in repair-deficient human cell lines. Nucleic Acids Res5:463-73 1978 |
| PubMed ID: 634794 |
| Passage Frozen |
6 |
| 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 |
20% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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