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
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84
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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 665; unaffected; last examined on 3/27/81; affected sibs are GM04287 & GM04285; father is GM04815; see GM04730A 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 |
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| Wilbertz JH, Frappier J, Muller S, Gratzer S, Englaro W, Stanek LM, Calamini B, Time-resolved FRET screening identifies small molecular modifiers of mutant Huntingtin conformational inflexibility in patient-derived cells SLAS discovery : advancing life sciences R & D: 2022 |
| PubMed ID: 35058188 |
| |
| Xu S, Li G, Ye X, Chen D, Chen Z, Xu Z, Daniele M, Tambone S, Ceccacci A, Tomei L, Ye L, Yu Y, Solbach A, Farmer SM, Stimming EF, McAllister G, Marchionini DM, Zhang S, HAP40 is a conserved central regulator of Huntingtin and a potential modulator of Huntington's disease pathogenesis PLoS genetics18:e1010302 2022 |
| PubMed ID: 35853002 |
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| 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 |
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| 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 |
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| Marcellin D, Abramowski D, Young D, Richter J, Weiss A, Marcel A, Maassen J, Kauffmann M, Bibel M, Shimshek DR, Faull RL, Bates GP, Kuhn RR, Van der Putten PH, Schmid P, Lotz GP, Fragments of HdhQ150 mutant huntingtin form a soluble oligomer pool that declines with aggregate deposition upon aging PloS one7:e44457 2012 |
| PubMed ID: 22984513 |
| |
| Weiss A, Grueninger S, Abramowski D, Giorgio FP, Lopatin MM, Rosas HD, Hersch S, Paganetti P, Microtiter plate quantification of mutant and wild-type huntingtin normalized to cell count Analytical biochemistry410:304-6 2010 |
| PubMed ID: 21134349 |
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| 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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