ID   GM04690
AC   CVCL_M953
SY   GM04690B; GM13056; GM17317
DR   CLO; CLO_0013319
DR   CLO; CLO_0013827
DR   CLO; CLO_0019031
DR   BioSample; SAMN00802074
DR   Coriell; GM04690
DR   Coriell; GM13056
DR   Coriell; GM17317
DR   Wikidata; Q54838632
RX   CelloPub=CLPUB00447;
WW   https://www.cephb.fr/en/familles_CEPH.php
CC   Part of: CEPH/Venezuelan pedigree cell line collection.
CC   Part of: Human variation panel.
CC   Part of: Venezuelan Huntington disease kindreds subcollection.
CC   Registration: CEPH Families Reference Panel; 10205/10402.
CC   Population: South American (Brazil, Guyana, Venezuela).
CC   Sequence variation: Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[45] (c.52CAG(45)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous.
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_M952 ! GM04689
OI   CVCL_W610 ! GM13184
SX   Female
AG   30Y
CA   Transformed cell line
DT   Created: 05-11-13; Last updated: 29-06-23; Version: 18
//
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).
//