ID   GM05258
AC   CVCL_0P49
SY   GM05258A
DR   CLO; CLO_0025232
DR   Coriell; GM05258
DR   Wikidata; Q54838946
RX   CelloPub=CLPUB00447;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 870; ATP7B; Simple; p.Glu1064Ala (c.3191A>C); ClinVar=VCV000370081; Zygosity=Heterozygous (Coriell=GM05258).
CC   Sequence variation: Mutation; HGNC; 870; ATP7B; Simple; p.His1069Gln (c.3207C>A); ClinVar=VCV000003848; Zygosity=Heterozygous (Coriell=GM05258).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84756; Hepatolenticular degeneration
DI   ORDO; Orphanet_905; Wilson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_0P48 ! GM05257
SX   Female
AG   34Y
CA   Transformed cell line
DT   Created: 10-04-15; Last updated: 30-01-24; 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).
//