ID   GM02164
AC   CVCL_F056
SY   GM-2164; GM02164B
DR   CLO; CLO_0031886
DR   BioSample; SAMN00807550
DR   Coriell; GM02164
DR   Wikidata; Q54837340
RX   CelloPub=CLPUB00447;
RX   PubMed=32656337;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[44] (c.52CAG(44)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=32656337).
CC   Sequence variation: Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[56] (c.52CAG(56)) (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)
OI   CVCL_F057 ! GM02165
SX   Male
AG   58Y
CA   Transformed cell line
DT   Created: 22-10-12; Last updated: 29-06-23; Version: 16
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=32656337; DOI=10.1126/sciadv.aaz4012;
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).
//