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
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|
Family Member
|
52
|
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Relation to Proband
|
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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|
| Passage Frozen |
4 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
Code 190; unaffected; last examined on 4/4/81; spouse of GM04877; mother is GM05559; see GM04864A Lymphoid |
| So Jung Park, Sung Min Son, Antonio Daniel Barbosa , Lidia Wrobel, Eleanna Stamatakou, Ferdinando Squitieri, Gabriel Balmus, David C Rubinsztein, Nuclear proteasomes buffer cytoplasmic proteins during autophagy compromise Nature Cell Biology: 2024 |
| PubMed ID: 39209961 |
| |
| Puri C, Manni MM, Vicinanza M, Hilcenko C, Zhu Y, Runwal G, Stamatakou E, Menzies FM, Mamchaoui K, Bitoun M, Rubinsztein DC, A DNM2 Centronuclear Myopathy Mutation Reveals a Link between Recycling Endosome Scission and Autophagy Developmental cell53:154-168.e6 2019 |
| PubMed ID: 32315611 |
| Passage Frozen |
4 |
| 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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