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
|
|
Race
|
White
|
|
Family Member
|
72
|
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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 |
6.72 |
| Passage Frozen |
6 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
Code 69; clinically affected; onset at age 42 yrs; affected spouse is GM06684Z; proband affected daughter is GM06596Z; neurological exam 3/82 shows prominent chorea of all extremities and reduced saccades - vertical > horizontal; see GM04766A Lymphoid |
| Akutsu SN, Miyamoto T, Oba D, Tomioka K, Ochiai H, Ohashi H, Matsuura S, iPSC reprogramming-mediated aneuploidy correction in autosomal trisomy syndromes PloS one17:e0264965 2022 |
| PubMed ID: 35271616 |
| |
| Seo H, Sonntag KC, Isacson O, Generalized brain and skin proteasome inhibition in Huntington's disease Annals of neurology56:319-28 2004 |
| PubMed ID: 15349858 |
| Cumulative PDL at Freeze |
10.2 |
| 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 |
| Substrate |
None specified |
| Supplement |
- |
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