GM00369
Fibroblast from Skin, Arm
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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Arm
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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, Arm
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Race
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White
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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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| PDL at Freeze |
5.33 |
| Passage Frozen |
13 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Remarks |
Clinically affected; complementation group A; multiple chromosome breaks and gaps; clinically affected; also referred to as subject C12 in publication by Elmore and Swift (1975, PMID 1214005). |
| 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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| 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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| Berger NA, Berger SJ, Catino DM, Abnormal NAD+ levels in cells from patients with Fanconi's anaemia. Nature299:271-3 1982 |
| PubMed ID: 6810184 |
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| Auerbach AD, Wolman SR, Chaganti RS, A spontaneous clone of Fanconi anemia fibroblasts with chromosome abnormalities and increased growth potential. Cytogenet Cell Genet28:265-70 1980 |
| PubMed ID: 7460627 |
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| Lubiniecki AS, Blattner WA, Dosik H, Sun C, Fraumeni JF Jr, SV40 T-antigen expression in skin fibroblasts from clinically normal individuals and from ten cases of Fanconi anemia. Am J Hematol2:33-40 1977 |
| PubMed ID: 194477 |
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| Elmore E, Swift M, Growth of cultured cells from patients with Fanconi anemia Journal of cellular physiology87:229-33 1975 |
| PubMed ID: 1214005 |
| Passage Frozen |
13 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
Gelatin |
| Supplement |
- |
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