ID   GM05539
AC   CVCL_1I95
DR   CLO; CLO_0024784
DR   Coriell; GM05539
DR   Wikidata; Q54841861
RX   PubMed=25928884;
CC   Part of: Venezuelan Huntington disease kindreds subcollection.
CC   Sequence variation: Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[97] (c.52CAG(97)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=25928884).
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)
OI   CVCL_1I94 ! GM05538
SX   Male
AG   10Y
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 29-06-23; Version: 11
//
RX   PubMed=25928884; DOI=10.1186/s13024-015-0018-7;
RA   Evers M.M., Schut M.H., Pepers B.A., Atalar M., van Belzen M.J.,
RA   Faull R.L.M., Roos R.A.C., van Roon-Mom W.M.C.;
RT   "Making (anti-) sense out of huntingtin levels in Huntington
RT   disease.";
RL   Mol. Neurodegener. 10:21.1-21.11(2015).
//