Description:
HUNTINGTON DISEASE; HD
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Venezuelan Huntington Disease
Heritable Diseases |
| Class |
Disorders of the Nervous System |
| Class |
Disorders with Trinucleotide Expansions |
|
Cell Type
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Fibroblast
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|
Transformant
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Untransformed
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|
Race
|
White
|
|
Family Member
|
17
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|
Relation to Proband
|
paternal uncle
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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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|
| Passage Frozen |
8 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Code 587; clinically affected; 4 affected sibs; brother of GM04867; affected children are GM04691 & 06440Z; unaffected spouse is GM04775; neuro exam 3/82 shows chorea, poor speech, & impaired swallowing |
| Sumbilla C, Lakowicz JR, Evidence for normal fibroblast cell membranes from individuals with Huntington's disease. A fluorescence probe study. J Neurol Sci62:23-40 1983 |
| PubMed ID: 6230415 |
| Passage Frozen |
8 |
| Split Ratio |
1:2 |
| 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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