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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82
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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 |
5.19 |
| Passage Frozen |
4 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
Code 653; clinically affected; age of onset 14 years; affected father is GM04287; neuro exam 3/82 shows bradykinesis, juvenile features of HD with markedly reduced saccadic velocity, Parkinsonian features, and marginal dystonia; see GM04724A Lymphoid |
| 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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| Fang L, Liu Q, Monteys AM, Gonzalez-Alegre P, Davidson BL, Wang K, DeepRepeat: direct quantification of short tandem repeats on signal data from nanopore sequencing Genome biology23:108 2021 |
| PubMed ID: 35484600 |
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| Huang B, Seefelder M, Buck E, Engler T, Lindenberg KS, Klein F, Landwehrmeyer GB, Kochanek S, HAP40 protein levels are huntingtin-dependent and decrease in Huntington disease Neurobiology of disease23:105476 2021 |
| PubMed ID: 34390835 |
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| Keller CG, Shin Y, Monteys AM, Renaud N, Beibel M, Teider N, Peters T, Faller T, St-Cyr S, Knehr J, Roma G, Reyes A, Hild M, Lukashev D, Theil D, Dales N, Cha JH, Borowsky B, Dolmetsch R, Davidson BL, Sivasankaran R, An orally available, brain penetrant, small molecule lowers huntingtin levels by enhancing pseudoexon inclusion Nature communications13:1150 2021 |
| PubMed ID: 35241644 |
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| Morelli KH, Wu Q, Gosztyla ML, Liu H, Yao M, Zhang C, Chen J, Marina RJ, Lee K, Jones KL, Huang MY, Li A, Smith-Geater C, Thompson LM, Duan W, Yeo GW, An RNA-targeting CRISPR-Cas13d system alleviates disease-related phenotypes in Huntington's disease models Nature neuroscience26:27-38 2021 |
| PubMed ID: 36510111 |
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| Shin JW, Hong EP, Park SS, Choi DE, Seong IS, Whittaker MN, Kleinstiver BP, Chen RZ, Lee JM, Allele-specific silencing of the gain-of-function mutation in Huntington's disease using CRISPR/Cas9 JCI insight7:27-38 2020 |
| PubMed ID: 36040815 |
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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 |
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| 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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| Pal A, Severin F, Lommer B, Shevchenko A, Zerial M, Huntingtin-HAP40 complex is a novel Rab5 effector that regulates early endosome motility and is up-regulated in Huntington's disease The Journal of cell biology172:605-18 2006 |
| PubMed ID: 16476778 |
| Passage Frozen |
4 |
| Split Ratio |
1:4 |
| 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 |
| Supplement |
- |
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