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
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Family Member
|
88
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Relation to Proband
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paternal cousin
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XX.arr(1-22,X)x2
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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 |
3 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
Code 561; clinically affected; onset at age 35 yrs; parents are GM04735 & GM05562Z; neuro exam 3/82 shows chorea & facial twitches; 1st cousin to proband; see GM04722A 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 |
| |
| 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 |
3 |
| Split Ratio |
1:3 |
| 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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