ID   GM08753
AC   CVCL_N087
SY   GM17068
DR   CLO; CLO_0010510
DR   CLO; CLO_0014572
DR   BioSample; SAMN00798160
DR   Coriell; GM08753
DR   Coriell; GM17068
DR   Wikidata; Q54843261
RX   CelloPub=CLPUB00447;
CC   Part of: Human variation panel.
CC   Population: Mexican.
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Heterozygous (Coriell=GM08753).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   25Y
CA   Transformed cell line
DT   Created: 05-11-13; 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).
//