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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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 |
5.99 |
| Passage Frozen |
7 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Remarks |
Code 48; rigid form of HD; possible homozygote; both parents affected; onset at age 14 years; neurological exam 3/82 shows a hypokinetic variant of HD with dystonia and marked tremor, ataxic wide-based gait; see GM04282A Lymphoid. |
| Umek T, Lundin KE, Mowoe MO, Hao Y, Roudi S, Žura L, Jørgensen PT, Lou C, Hagey DW, Wengel J, Smith CIE, Zain R, Anti-gene oligonucleotide clamps invade dsDNA and downregulate Molecular therapy Nucleic acids35:102348 2023 |
| PubMed ID: 39763502 |
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| Kotowska-Zimmer A, Przybyl L, Pewinska M, Suszynska-Zajczyk J, Wronka D, Figiel M, Olejniczak M., A CAG repeat-targeting artificial miRNA lowers the mutant huntingtin level in the YAC128 model of Huntington's disease Molecular Therapy: Nucleic Acid28:702-715 2022 |
| PubMed ID: 35664700 |
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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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| Hirai K, Yamashita H, Tomoshige S, Mishima Y, Niwa T, Ohgane K, Ishii M, Kanamitsu K, Ikemi Y, Nakagawa S, Taguchi H, Sato S, Hashimoto Y, Ishikawa M, Conversion of a PROTAC Mutant Huntingtin Degrader into Small-Molecule Hydrophobic Tags Focusing on Drug-like Properties ACS medicinal chemistry letters13:396-402 2021 |
| PubMed ID: 35300080 |
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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 disease13:105476 2021 |
| PubMed ID: 34390835 |
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| Konieczny P, Mukherjee S, Stepniak-Konieczna E, Taylor K, Niewiadomska D, Piasecka A, Walczak A, Baud A, Dohno C, Nakatani K, Sobczak K, Cyclic mismatch binding ligands interact with disease-associated CGG trinucleotide repeats in RNA and suppress their translation Nucleic acids research13:105476 2021 |
| PubMed ID: 34358321 |
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| Ramírez-Jarquín UN, Sharma M, Zhou W, Shahani N, Subramaniam S, Deletion of SUMO1 attenuates behavioral and anatomical deficits by regulating autophagic activities in Huntington disease Proceedings of the National Academy of Sciences of the United States of America119:105476 2021 |
| PubMed ID: 35086928 |
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| Sogorb-Gonzalez M, Vendrell-Tornero C, Snapper J, Stam A, Keskin S, Miniarikova J, Spronck EA, de Haan M, Nieuwland R, Konstantinova P, van Deventer SJ, Evers MM, Vallès A, Secreted therapeutics: monitoring durability of microRNA-based gene therapies in the central nervous system Brain communications3:fcab054 2020 |
| PubMed ID: 34704020 |
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| Ciesiolka A, Stroynowska-Czerwinska A, Joachimiak P, Ciolak A, Kozlowska E, Michalak M, Dabrowska M, Olejniczak M, Raczynska KD, Zielinska D, Wozna-Wysocka M, Krzyzosiak WJ, Fiszer A, Artificial miRNAs targeting CAG repeat expansion in ORFs cause rapid deadenylation and translation inhibition of mutant transcripts Cellular and molecular life sciences : CMLS3:fcab054 2019 |
| PubMed ID: 32696070 |
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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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| Khan E, Biswas S, Mishra SK, Mishra R, Samanta S, Mishra A, Tawani A, Kumar A, Rationally designed small molecules targeting toxic CAG repeat RNA that causes Huntington's disease (HD) and spinocerebellar ataxia (SCAs) Biochimie163:21-32 2019 |
| PubMed ID: 31075282 |
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| Khan E, Mishra SK, Mishra R, Mishra A, Kumar A, Discovery of a potent small molecule inhibiting Huntington's disease (HD) pathogenesis via targeting CAG repeats RNA and Poly Q protein Scientific reports9:16872 2019 |
| PubMed ID: 31728006 |
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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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| 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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| Zhang X, Chen W, Gao Q, Yang J, Yan X, Zhao H, Su L, Yang M, Gao C, Yao Y, Inoki K, Li D, Shao R, Wang S, Sahoo N, Kudo F, Eguchi T, Ruan B, Xu H, Rapamycin directly activates lysosomal mucolipin TRP channels independent of mTOR PLoS biology17:e3000252 2018 |
| PubMed ID: 31112550 |
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| Liu Y, Xue Y, Ridley S, Zhang D, Rezvani K, Fu XD, Wang H, Direct reprogramming of Huntington's disease patient fibroblasts into neuron-like cells leads to abnormal neurite outgrowth, increased cell death, and aggregate formation PloS one9:e109621 2014 |
| PubMed ID: 25275533 |
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| Yu D, Pendergraff H, Liu J, Kordasiewicz HB, Cleveland DW, Swayze EE, Lima WF, Crooke ST, Prakash TP, Corey DR, Single-stranded RNAs use RNAi to potently and allele-selectively inhibit mutant huntingtin expression Cell150:895-908 2012 |
| PubMed ID: 22939619 |
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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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| Li X, Standley C, Sapp E, Valencia A, Qin ZH, Kegel KB, Yoder J, Comer-Tierney LA, Esteves M, Chase K, Alexander J, Masso N, Sobin L, Bellve K, Tuft R, Lifshitz L, Fogarty K, Aronin N, DiFiglia M, Mutant huntingtin impairs vesicle formation from recycling endosomes by interfering with Rab11 activity Molecular and cellular biology29:6106-16 2009 |
| PubMed ID: 19752198 |
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| Park IH, Arora N, Huo H, Maherali N, Ahfeldt T, Shimamura A, Lensch MW, Cowan C, Hochedlinger K, Daley GQ, Disease-Specific Induced Pluripotent Stem Cells Cell134(5):877-86 2008 |
| PubMed ID: 18691744 |
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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 |
7 |
| 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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