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 |
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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
|
30
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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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|
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
Code 10; unaffected; last examined on 3/23/81; spouse of GM04707A; affected sib is GM04476 |
| 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 |
| |
| Wrobel L, Hill SM, Djajadikerta A, Fernandez-Estevez M, Karabiyik C, Ashkenazi A, Barratt VJ, Stamatakou E, Gunnarsson A, Rasmusson T, Miele EW, Beaton N, Bruderer R, Feng Y, Reiter L, Castaldi MP, Jarvis R, Tan K, Bürli RW, Rubinsztein DC, Compounds activating VCP D1 ATPase enhance both autophagic and proteasomal neurotoxic protein clearance Nature communications13:4146 2021 |
| PubMed ID: 35842429 |
| |
| 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 |
| |
| 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 |
2 |
| Split Ratio |
1:4 |
| 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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