ID   TruHD-Q50Q40F
AC   CVCL_A5WA
DR   Wikidata; Q107117127
RX   PubMed=30256717;
CC   Sequence variation: Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[40] (c.52CAG(40)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=30256717).
CC   Sequence variation: Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[50] (c.52CAG(50)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=30256717).
CC   Transfected with: HGNC; 11730; TERT.
CC   Transfected with: 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_1I63 ! GM04857
SX   Female
AG   23Y
CA   Telomerase immortalized cell line
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=30256717; DOI=10.1091/mbc.E18-09-0590;
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).
//