GM02188
LCL from B-Lymphocyte
Description:
HUNTINGTON DISEASE; HD
APPARENTLY HEALTHY INDIVIDUAL
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
| Class |
Disorders with Trinucleotide Expansions |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Family Member
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6
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Relation to Proband
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brother-in-law
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
Normal spouse of GM02186; see GM02189 Fibroblast |
| Liu X, Matsuda A, Plunkett W, Ataxia-telangiectasia and Rad3-related and DNA-dependent protein kinase cooperate in G2 checkpoint activation by the DNA strand-breaking nucleoside analogue 2'-C-cyano-2'-deoxy-1-beta-D-arabino-pentofuranosylcytosine Molecular cancer therapeutics7:133-42 2008 |
| PubMed ID: 18202016 |
| |
| Griffith E, Walker S, Martin CA, Vagnarelli P, Stiff T, Vernay B, Al Sanna N, Saggar A, Hamel B, Earnshaw WC, Jeggo PA, Jackson AP, O'Driscoll M, Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling Nature genetics40:232-6 2007 |
| PubMed ID: 18157127 |
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| Stiff T, Reis C, Alderton GK, Woodbine L, O'Driscoll M, Jeggo PA, Nbs1 is required for ATR-dependent phosphorylation events. EMBO J24(1):199-208 2005 |
| PubMed ID: 15616588 |
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| Alderton GK, Joenje H, Varon R, Borglum AD, Jeggo PA, O'Driscoll M, Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway. Hum Mol Genet13(24):3127-38 2004 |
| PubMed ID: 15496423 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
20% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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