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, Gustavo A.
RA   Leleu, Marion
RA   Marzetta, Flavia
RA   Vanzan, Ludovica
RA   Tan, Jennifer Y.
RA   Ythier, Victor
RA   Randall, Emma L.
RA   Marques, Ana Claudia
RA   Baubec, Tuncay
RA   Murr, Rabih
RA   Xenarios, Ioannis
RA   Dion, Vincent
RT   "Three-dimensional chromatin interactions remain stable upon CAG/CTG
RT   repeat expansion.";
RL   Sci. Adv. 6:eaaz4012.1-eaaz4012.12(2020).
//