Cellosaurus logo
expasy logo

Cellosaurus TruHD-Q43Q17M (CVCL_A5VZ)

[Text version]
Cell line name TruHD-Q43Q17M
Accession CVCL_A5VZ
Resource Identification Initiative To cite this cell line use: TruHD-Q43Q17M (RRID:CVCL_A5VZ)
Comments Genetic integration: Method=Transduction; Gene=HGNC; HGNC:11730; TERT.
Genetic integration: Method=Transduction; Gene=UniProtKB; P13249; S.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[43] (c.52CAG(43)) (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_Y899 (ND30013)
Sex of cell Male
Age at sampling 54Y
Category Telomerase immortalized cell line
Publications

PubMed=30256717; DOI=10.1091/mbc.E18-09-0590; PMCID=PMC6249865
Hung C.L.-K., Maiuri T., Bowie L.E., Gotesman R., Son S., Falcone M., Giordano J.V., Gillis T., Mattis V.B., Lau T., Kwan V., Wheeler V.C., Schertzer J., Singh K., Truant R.
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; Q107117126
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number7