Description:
FANCONI ANEMIA COMPLEMENTATION GROUP UNDETERMINED
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
| Class |
Syndromes with Increased Chromosome Breakage |
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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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Race
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White
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Ethnicity
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ARABIAN
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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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ISCN
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46,XX[20]
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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 |
7 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
46,XX; multiple breaks, gaps, occasional dicentrics; Arab; clinically affected; cells are not sensitive to cell-killing by mitomycin-C or diepoxybutane even at higher concentrations; see SV40 Transformed Fibroblasts GM06935A |
| 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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| 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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| Fukunaga N, Burrows HL, Meyers M, Schea RA, Boothman DA, Enhanced induction of tissue-type plasminogen activator in normal human cells compared to cancer-prone cells following ionizing radiation. Int J Radiat Oncol Biol Phys24(5):949-57 1992 |
| PubMed ID: 1447036 |
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| Goldstein S, Jones RA, Hardin JW, Braunstein GD, Shmookler Reis RJ, Expression of alpha- and beta-human chorionic gonadotropin subunits in cultured human cells. In Vitro Cell Dev Biol26:857-64 1990 |
| PubMed ID: 1699921 |
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| Boothman DA, Bouvard I, Hughes EN, Identification and characterization of X-ray-induced proteins in human cells. Cancer Res49:2871-8 1989 |
| PubMed ID: 2720648 |
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| Wood CM, Timme TL, Hurt MM, Brinkley BR, Ledbetter DH, Moses RE, Transformation of DNA repair-deficient human diploid fibroblasts with a simian virus 40 plasmid. Exp Cell Res169:543-53 1987 |
| PubMed ID: 3030788 |
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| Hurt MM, Moses RE, Conversion of replicative intermediates in human DNA-repair defective cells. Exp Cell Res163:396-404 1986 |
| PubMed ID: 3956584 |
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| Dean SW, Fox M, Investigation of the cell cycle response of normal and Fanconi's anaemia fibroblasts to nitrogen mustard using flow cytometry. J Cell Sci64:265-79 1983 |
| PubMed ID: 6662859 |
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| Hurt MM, Beaudet AL, Moses RE, Stable low molecular weight DNA in xeroderma pigmentosum cells. Proc Natl Acad Sci U S A80:6987-91 1983 |
| PubMed ID: 6196782 |
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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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| Seres DS, Fornace AJ Jr, Normal response of fanconi's anemia cells to high concentrations of O2 as determined by alkaline elution. Biochim Biophys Acta698:237-42 1982 |
| PubMed ID: 7138867 |
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| 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 |
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| Hohmann P, Species- and cell-specific expression of H1 histones in tissue culture cells. Arch Biochem Biophys205:198-209 1980 |
| PubMed ID: 7447476 |
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| Cohen MM, Sagi M, Ben-Zur Z, Schaap T, Voss R, Kohn G, Ben-Bassat H, Ataxia telangiectasia: chromosomal stability in continuous lymphoblastoid cell lines. Cytogenet Cell Genet23:44-52 1979 |
| PubMed ID: 761484 |
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| 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 484:44-52 1979 |
| PubMed ID: 761484 |
| Passage Frozen |
7 |
| 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 |
- |
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