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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1
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Relation to Proband
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proband
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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 |
5.13 |
| Passage Frozen |
11 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Hoschek F, Natan J, Wagner M, Sathasivam K, Abdelmoez A, von Einem B, Bates GP, Landwehrmeyer GB, Neueder A, Huntingtin HTT1a is generated in a CAG repeat-length-dependent manner in human tissues Molecular medicine (Cambridge, Mass)30:36 2023 |
| PubMed ID: 38459427 |
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| Miller DC, Lisowski P, Genehr C, Wanker EE, Priller J, Prigione A, Diecke S, Generation of an induced pluripotent stem cell line from a Huntington's disease patient with a long HTT-PolyQ sequence Stem cell research68:103056 2022 |
| PubMed ID: 36863131 |
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| Seo JH, Shin JH, Lee J, Kim D, Hwang HY, Nam BG, Lee J, Kim HH, Cho SR, DNA double-strand break-free CRISPR interference delays Huntington's disease progression in mice Communications biology6:466 2022 |
| PubMed ID: 37117485 |
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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 & D6:466 2022 |
| PubMed ID: 35058188 |
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| 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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| 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 |
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| Chan KY, Li X, Ortega J, Gu L, Li GM, DNA polymerase ? promotes CAG•CTG repeat expansions in Huntington's disease via insertion sequences of its catalytic domain The Journal of biological chemistry297:101144 2021 |
| PubMed ID: 34473992 |
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| Roy JCL, Vitalo A, Andrew MA, Mota-Silva E, Kovalenko M, Burch Z, Nhu AM, Cohen PE, Grabczyk E, Wheeler VC, Mouro Pinto R, Somatic CAG expansion in Huntington's disease is dependent on the MLH3 endonuclease domain, which can be excluded via splice redirection Nucleic acids research297:101144 2021 |
| PubMed ID: 33751106 |
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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 insight7:101144 2020 |
| PubMed ID: 36040815 |
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| Cohen-Carmon D, Sorek M, Lerner V, Nissim-Rafinia M, Yarom Y, Meshorer E, Progerin-Induced Transcriptional Changes in Huntington's Disease Human Pluripotent Stem Cell-Derived Neurons Molecular neurobiology7:101144 2019 |
| PubMed ID: 31834602 |
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| Dabrowska M, Olejniczak M, Gene Therapy for Huntington's Disease Using Targeted Endonucleases Methods in molecular biology (Clifton, NJ)2056:269-284 2019 |
| PubMed ID: 31586354 |
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| Imbert M, Blandel F, Leumann C, Garcia L, Goyenvalle A, Lowering Mutant Huntingtin Using Tricyclo-DNA Antisense Oligonucleotides As a Therapeutic Approach for Huntington's Disease Nucleic acid therapeutics29:256-265 2019 |
| PubMed ID: 31184975 |
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| Kotowska-Zimmer A, Ostrovska Y, Olejniczak M, Universal RNAi Triggers for the Specific Inhibition of Mutant Huntingtin, Atrophin-1, Ataxin-3, and Ataxin-7 Expression Molecular therapy Nucleic acids19:562-571 2019 |
| PubMed ID: 31927329 |
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| Zhao M, Cheah FSH, Tan ASC, Lian M, Phang GP, Agarwal A, Chong SS, Robust Preimplantation Genetic Testing of Huntington Disease by Combined Triplet-Primed PCR Analysis of the HTT CAG Repeat and Multi-Microsatellite Haplotyping Scientific reports9:16481 2019 |
| PubMed ID: 31712634 |
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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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| Nakamori M, Panigrahi GB, Lanni S, Gall-Duncan T, Hayakawa H, Tanaka H, Luo J, Otabe T, Li J, Sakata A, Caron MC, Joshi N, Prasolava T, Chiang K, Masson JY, Wold MS, Wang X, Lee MYWT, Huddleston J, Munson KM, Davidson S, Layeghifard M, Edward LM, Gallon R, Santibanez-Koref M, Murata A, Takahashi MP, Eichler EE, Shlien A, Nakatani K, Mochizuki H, Pearson CE, A slipped-CAG DNA-binding small molecule induces trinucleotide-repeat contractions in vivo Nature genetics52:146-159 2018 |
| PubMed ID: 32060489 |
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| Brandstaetter H, Kruppa AJ, Buss F, Huntingtin is required for ER-to-Golgi transport and for secretory vesicle fusion at the plasma membrane Disease models & mechanisms7:1335-40 2014 |
| PubMed ID: 25368120 |
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| de Mezer M, Wojciechowska M, Napierala M, Sobczak K, Krzyzosiak WJ, Mutant CAG repeats of Huntingtin transcript fold into hairpins, form nuclear foci and are targets for RNA interference Nucleic acids research39:3852-63 2011 |
| PubMed ID: 21247881 |
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| Fiszer A, Mykowska A, Krzyzosiak WJ, Inhibition of mutant huntingtin expression by RNA duplex targeting expanded CAG repeats Nucleic acids research39:5578-85 2011 |
| PubMed ID: 21427085 |
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| Liu CR, Chang CR, Chern Y, Wang TH, Hsieh WC, Shen WC, Chang CY, Chu IC, Deng N, Cohen SN, Cheng TH, Spt4 is selectively required for transcription of extended trinucleotide repeats Cell148:690-701 2011 |
| PubMed ID: 22341442 |
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| Sathasivam K, Amaechi I, Mangiarini L, Bates G, Identification of an HD patient with a (CAG)180 repeat expansion and the propagation of highly expanded CAG repeats in lambda phage. Hum Genet99(5):692-695 1997 |
| PubMed ID: 9150744 |
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| Oki J, Miyamoto A, Itoh J, Kusunoki Y, Cho K, [A longitudinal study of children with language delay at 3 years of age; later WPPSI and school attendance] No to hattatsu Brain and development24:3-8 1992 |
| PubMed ID: 1731826 |
| Passage Frozen |
11 |
| Split Ratio |
1:7 |
| 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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