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Cellosaurus TruHD-Q50Q40F (CVCL_A5WA)

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Cell line name TruHD-Q50Q40F
Accession CVCL_A5WA
Resource Identification Initiative To cite this cell line use: TruHD-Q50Q40F (RRID:CVCL_A5WA)
Comments Genetic integration: Method=Transduction; Gene=HGNC; HGNC:11730; TERT.
Genetic integration: Method=Transduction; Gene=UniProtKB; P13249; Streptomyces alboniger pac (PuroR).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[40] (c.52CAG(40)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=30256717).
  • Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[50] (c.52CAG(50)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=30256717).
Disease Huntington's disease (NCIt: C82342)
Huntington disease (ORDO: Orphanet_399)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_1I63 (GM04857)
Sex of cell Female
Age at sampling 23Y
Category Telomerase immortalized cell line
Publications

PubMed=30256717; DOI=10.1091/mbc.E18-09-0590; PMCID=PMC6249865
Claudia Lin-Kar Hung, Tamara Maiuri, Laura Erin Bowie, Ryan Gotesman, Susie Son, Mina Falcone, James Victor Giordano, Tammy Gillis, Virginia B. Mattis, Trevor Lau, Vickie Kwan ...Show all 15 authors... , Vanessa Chantal Wheeler, Jonathan Schertzer, Karun Singh, Ray Truant; Show fewer authors
A patient-derived cellular model for Huntington's disease reveals phenotypes at clinically relevant CAG lengths.
Mol. Biol. Cell 29:2809-2820(2018)

Cross-references
Encyclopedic resources Wikidata; Q107117127
Entry history
Entry creation20-May-2021
Last entry update14-Aug-2025
Version number8