Description:
HUNTINGTON DISEASE; HD
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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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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Family History
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Y
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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 |
4.73 |
| Passage Frozen |
4 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Choreoathetotic movements of all extremities and slurred speech; positive family history of HD |
| Shin JW, Shin A, Park SS, Lee JM, Haplotype-specific insertion-deletion variations for allele-specific targeting in Huntington's disease Molecular therapy Methods & clinical development25:84-95 2021 |
| PubMed ID: 35356757 |
| |
| Kim KH, Abu Elneel K, Shin JW, Keum JW, Seong D, Kwak S, Lee R, Gusella JF, MacDonald ME, Seong IS, Lee JM, Full sequence of mutant huntingtin 3'-untranslated region and modulation of its gene regulatory activity by endogenous microRNA Journal of human genetics25:84-95 2019 |
| PubMed ID: 31296921 |
| |
| Chua CC, Geiman DE, Ladda RL, Detection of an Mr 200,000 glycoprotein in the culture medium of skin fibroblasts from patients with Huntington disease. Biochem Biophys Res Commun111:690-9 1983 |
| PubMed ID: 6220707 |
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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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| 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 |
| |
| Hung WY, Mold DE, Tourian A, Huntington's-chorea fibroblasts. Cellular protein glycosylation. Biochem J190:711-9 1980 |
| PubMed ID: 6451218 |
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| Gray PN, Dana SL, GABA synthesis by cultured fibroblasts obtained from persons with Huntington's disease. J Neurochem33:985-92 1979 |
| PubMed ID: 159344 |
| Passage Frozen |
4 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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 |
| Supplement |
- |
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