GM16147
Fibroblast from Gonad, Ovary
Description:
CRICETULUS
X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 4; XRCC4
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Animals |
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Biopsy Source
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Ovary
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Cell Type
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Fibroblast
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Tissue Type
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Gonad
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Gonad, Ovary
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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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Cricetulus griseus
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Common Name
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chinese hamster
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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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| Gene |
RYR1 |
| Chromosomal Location |
19q13.2 |
| Allelic Variant 1 |
p.Q1589P; CENTRAL CORE DISEASE |
| Identified Mutation |
p.Q1589P |
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| Gene |
FLNA |
| Chromosomal Location |
Xq28 |
| Allelic Variant 1 |
p.P680L; CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVD1 |
| Identified Mutation |
c.2039C>T |
| Remarks |
Line XR-1; Chinese hamster ovary fibroblast line derived from cell line 4364 which is a proline, glycine-deficient mutant isolated from CHO-K1. XR-1 has a unique cell cycle-dependent x-ray sensitivity, very sensitive G1 and early S, less sensitive in late S phase. Defective in the repair of DNA double strand breaks through the nonhomologous end joining mechanism and in V(D)J recombination where both conserved recognition sequence and coding sequence rejoining are affected. XR-1 is complemented by the human XRCC (x-ray cross complementing) 4 gene, located on 5q13-14. HuXRCC4 encodes a ubiquitously expressed 38KDa protein unrelated to any described protein. Both XRCC4 copies are deleted in XR-1. XRCC4 protein forms a complex with and stimulates DNA ligase IV activity. |
| Sturgeon CM, Knight ZA, Shokat KM, Roberge M, Effect of combined DNA repair inhibition and G2 checkpoint inhibition on cell cycle progression after DNA damage Molecular cancer therapeutics5:885-92 2006 |
| PubMed ID: 16648558 |
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| Zhou T, Povirk LF, Extreme cytotoxicity and susceptibility to hprt mutagenesis in Ku-deficient xrs-6 cells treated with bleomycin in plateau phase Mutagenesis20:39-44 2005 |
| PubMed ID: 15671058 |
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| Grawunder U, Wilm M, Wu X, Kulesza P, Wilson TE, Mann M, Lieber MR, Activity of DNA ligase IV stimulated by complex formation with XRCC4 protein in mammalian cells. Nature388(6641):492-5 1997 |
| PubMed ID: 9242410 |
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| Mizuta R, Cheng HL, Gao Y, Alt FW, Molecular genetic characterization of XRCC4 function. Int Immunol9(10):1607-13 1997 |
| PubMed ID: 9352367 |
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| Li Z, Otevrel T, Gao Y, Cheng HL, Seed B, Stamato TD, Taccioli GE, Alt FW, The XRCC4 gene encodes a novel protein involved in DNA double-strand break repair and V(D)J recombination. Cell83:1079-89 1995 |
| PubMed ID: 8548796 |
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| Otevrel T, Stamato TD, Regional localization of the XRCC4 human radiation repair gene. Genomics27(1):211-4 1995 |
| PubMed ID: 7665175 |
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| Giaccia AJ, Denko N, MacLaren R, Mirman D, Waldren C, Hart I, Stamato TD, Human chromosome 5 complements the DNA double-strand break-repair deficiency and gamma-ray sensitivity of the XR-1 hamster variant. Am J Hum Genet47:459-69 1990 |
| PubMed ID: 1697445 |
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| Giaccia AJ, MacLaren RA, Denko N, Nicolaou D, Stamato TD, Increased sensitivity to killing by restriction enzymes in the XR-1 DNA double-strand break repair-deficient mutant. Mutat Res236:67-76 1990 |
| PubMed ID: 2164147 |
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| Stamato, T, Isolation of cell cycle-dependent gamma ray-sensitive Chinese hamster ovary cell Somatic Cell Genet9:165-173 1983 |
| PubMed ID: 2164147 |
| Split Ratio |
1:10 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Ham's F12 with 2mM L-glutamine or equivalent |
| Serum |
5% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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