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
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White
|
|
Family Member
|
40
|
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Relation to Proband
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maternal cousin
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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 |
6.05 |
| Passage Frozen |
6 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
Code 387; clinically affected; onset at age 43 years; affected son is GM05625Z; affected sibs are GM05555Z, 04727, and 06444Z; neurological exam 3/82 shows moderate chorea with parakinesias; see GM06348 Lymphoid |
| Gharaba S, Sprecher U, Baransi A, Muchtar N, Weil M, Characterization of fission and fusion mitochondrial dynamics in HD fibroblasts according to patient's severity status Neurobiology of disease201:106667 2024 |
| PubMed ID: 39284371 |
| Passage Frozen |
6 |
| Split Ratio |
1:2 |
| 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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