ID   GM04718
AC   CVCL_V569
SY   GM04718A
DR   CLO; CLO_0019022
DR   Coriell; GM04718
DR   Wikidata; Q54838650
RX   CelloPub=CLPUB00447;
CC   Part of: Venezuelan Huntington disease kindreds subcollection.
CC   Sequence variation: Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[42] (c.52CAG(42)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (from autologous cell line GM04718).
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_V568 ! GM04717
SX   Female
AG   44Y
CA   Transformed cell line
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 15
//
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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//