ID   GM14044
AC   CVCL_1J83
DR   CLO; CLO_0033775
DR   Coriell; GM14044
DR   Wikidata; Q54846999
RX   PubMed=32656337;
CC   Sequence variation: Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[750] (c.52CAG(750)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=32656337).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C82342; Huntington's disease
DI   ORDO; Orphanet_399; Huntington disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   16Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 11
//
RX   PubMed=32656337; DOI=10.1126/sciadv.aaz4012; PMCID=PMC7334000;
RA   Ruiz Buendia G.A., Leleu M., Marzetta F., Vanzan L., Tan J.Y.,
RA   Ythier V., Randall E.L., Marques A.C., Baubec T., Murr R.,
RA   Xenarios I., Dion V.;
RT   "Three-dimensional chromatin interactions remain stable upon CAG/CTG
RT   repeat expansion.";
RL   Sci. Adv. 6:eaaz4012.1-eaaz4012.12(2020).
//