GM02185
Fibroblast from Skin, Unspecified
Description:
APPARENTLY HEALTHY INDIVIDUAL
HUNTINGTON DISEASE; HD
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
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Biopsy Source
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Unspecified
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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, Unspecified
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Race
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White
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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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ISCN
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46,XY,t(11;15)(p15;q24).arr(1-22)x2,(XY)x1
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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 and by Chromosome Analysis |
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| Remarks |
46,XY; normal spouse of a Huntington's disease patient; skin biopsy; see GM02184 Lymphoid; 5% of cells show chromosome structural aberrations |
| Wong, Sodium-independent glutamic acid binding in cultured fibroblasts from patients with Huntington's disease. Neurochem Int6:245 (1984): 1984 |
| PubMed ID: |
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| Sorbi S, Bird ED, Blass JP, Decreased pyruvate dehydrogenase complex activity in Huntington and Alzheimer brain. Ann Neurol13:72-8 1983 |
| PubMed ID: 6219611 |
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| Sorbi S, Blass JP, Abnormal activation of pyruvate dehydrogenase in Leigh disease fibroblasts. Neurology32:555-8 1982 |
| PubMed ID: 7200213 |
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| Sorbi S, Blass JP, Spectrophotometric measurement of pyruvate dehydrogenase complex activity in cultured human fibroblasts. J Biochem Biophys Methods5:169-76 1981 |
| PubMed ID: 7299037 |
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| Gray PN, May PC, Mundy L, Elkins J, L-Glutamate toxicity in Huntington's disease fibroblasts. Biochem Biophys Res Commun95:707-14 1980 |
| PubMed ID: 6448048 |
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| Brown, Two-dimensional analysis of radiolabeled proteins in cultured Huntington's Disease fibroblasts. Adv Neurol23:361 (1979):707-14 1979 |
| PubMed ID: 6448048 |
| Passage Frozen |
6 |
| Split Ratio |
1:4 |
| 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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