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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78
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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 |
6.61 |
| Passage Frozen |
3 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
Code 8; clinically affected; onset at age 45 yrs; affected spouse is GM04478; 10 affected children & 2 with probable HD; neuro exam 3/82 shows difficulty in ambulation with frequent falls; see GM04477B Lymphoid |
| Gharaba S, Sprecher U, Baransi A, Muchtar N, Weil M, Characterization of fission and fusion mitochondrial dynamics in HD fibroblasts according to patient's severity status Neurobiology of disease201:106667 2024 |
| PubMed ID: 39284371 |
| |
| 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 & D201:106667 2022 |
| PubMed ID: 35058188 |
| |
| 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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| Marchina E, Misasi S, Bozzato A, Ferraboli S, Agosti C, Rozzini L, Borsani G, Barlati S, Padovani A., Gene expression profile in fibroblasts of Huntington's disease patients and controls. J Neurol Sci.pii:S0022-510X(13)03043-8 2013 |
| PubMed ID: 24296361 |
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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 |
| Passage Frozen |
3 |
| Split Ratio |
3 |
| 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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