ID   TruHD-Q43Q17M
AC   CVCL_A5VZ
DR   Wikidata; Q107117126
RX   PubMed=30256717;
CC   Sequence variation: Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[43] (c.52CAG(43)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=30256717).
CC   Genetic integration: Method=Transduction; Gene=HGNC; HGNC:11730; TERT.
CC   Genetic integration: Method=Transduction; Gene=UniProtKB; P13249; S.alboniger pac (PuroR).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C82342; Huntington's disease
DI   ORDO; Orphanet_399; Huntington disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_Y899 ! ND30013
SX   Male
AG   54Y
CA   Telomerase immortalized cell line
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 7
//
RX   PubMed=30256717; DOI=10.1091/mbc.E18-09-0590; PMCID=PMC6249865;
RA   Hung C.L.-K., Maiuri T., Bowie L.E., Gotesman R., Son S., Falcone M.,
RA   Giordano J.V., Gillis T., Mattis V.B., Lau T., Kwan V., Wheeler V.C.,
RA   Schertzer J., Singh K., Truant R.;
RT   "A patient-derived cellular model for Huntington's disease reveals
RT   phenotypes at clinically relevant CAG lengths.";
RL   Mol. Biol. Cell 29:2809-2820(2018).
//