Description:
HUNTINGTON DISEASE; HD
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
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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3
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Relation to Proband
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daughter
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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 |
3.51 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
At risk (50%) ; see GM2182 Lymphoid |
| Akimov SS, Jiang M, Kedaigle AJ, Arbez N, Marque LO, Eddings CR, Ranum PT, Whelan E, Tang A, Wang R, DeVine LR, Talbot CC, Cole RN, Ratovitski T, Davidson BL, Fraenkel E, Ross CA, Immortalized striatal precursor neurons from Huntington's disease patient-derived iPS cells as a platform for target identification and screening for experimental therapeutics Human molecular genetics30:2469-2487 2021 |
| PubMed ID: 34296279 |
| |
| NeuroLINCS Consortium , Li J, Lim RG, Kaye JA, Dardov V, Coyne AN, Wu J, Milani P, Cheng A, Thompson TG, Ornelas L, Frank A, Adam M, Banuelos MG, Casale M, Cox V, Escalante-Chong R, Daigle JG, Gomez E, Hayes L, Holewenski R, Lei S, Lenail A, Lima L, Mandefro B, Matlock A, Panther L, Patel-Murray NL, Pham J, Ramamoorthy D, Sachs K, Shelley B, Stocksdale J, Trost H, Wilhelm M, Venkatraman V, Wassie BT, Wyman S, Yang S, NYGC ALS Consortium S, Van Eyk JE, Lloyd TE, Finkbeiner S, Fraenkel E, Rothstein JD, Sareen D, Svendsen CN, Thompson LM, An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients iScience24:103221 2021 |
| PubMed ID: 34746695 |
| |
| Kaifer KA, Villalón E, O'Brien BS, Sison SL, Smith CE, Simon ME, Marquez J, O'Day S, Hopkins AE, Neff R, Rindt H, Ebert AD, Lorson CL, AAV9-Mediated Delivery of miR-23a Reduces Disease Severity in Smn2B-/SMA Model Mice Human molecular genetics24:103221 2019 |
| PubMed ID: 31211843 |
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| Koyuncu S1, Saez I1, Lee HJ1, Gutierrez-Garcia R1, Pokrzywa W1,2, Fatima A1, Hoppe T1, Vilchez D3., The ubiquitin ligase UBR5 suppresses proteostasis collapse in pluripotent stem cells from Huntington's disease patients Nature Communications9:2886 2018 |
| PubMed ID: 30038412 |
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| Schwab AJ, Sison SL, Meade MR, Broniowska KA, Corbett JA, Ebert AD, Decreased Sirtuin Deacetylase Activity in LRRK2 G2019S iPSC-Derived Dopaminergic Neurons Stem cell reports9:2886 2017 |
| PubMed ID: 29129681 |
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| Chua CC, Geiman DE, Ladda RL, Detection of an Mr 200,000 glycoprotein in the culture medium of skin fibroblasts from patients with Huntington disease. Biochem Biophys Res Commun111:690-9 1983 |
| PubMed ID: 6220707 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
Gelatin |
| Supplement |
- |
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