Description:
HUNTINGTON DISEASE; HD
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Repository
|
NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
| Class |
Disorders with Trinucleotide Expansions |
|
Cell Type
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Fibroblast
|
|
Transformant
|
Untransformed
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|
Race
|
White
|
|
Family Member
|
1
|
|
Family History
|
Y
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
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|
Species
|
Homo sapiens
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|
Common Name
|
Human
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|
Remarks
|
|
| Passage Frozen |
6 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
See GM02080A Lymphoid; father is also affected |
| 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 |
| |
| Brown, Two-dimensional analysis of radiolabeled proteins in cultured Huntington's Disease fibroblasts. Adv Neurol23:361 (1979):690-9 1979 |
| PubMed ID: 6220707 |
| 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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