ID   GM10873
AC   CVCL_N158
SY   GM17368
DR   CLO; CLO_0013711
DR   CLO; CLO_0024125
DR   BioSample; SAMN00800304
DR   Coriell; GM10873
DR   Coriell; GM17368
DR   Wikidata; Q54844710
RX   CelloPub=CLPUB00447;
CC   Part of: Human variation panel.
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Homozygous (Coriell=GM10873).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C61268; Gaucher disease
DI   ORDO; Orphanet_355; Gaucher disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   79Y
CA   Transformed cell line
DT   Created: 05-11-13; Last updated: 30-01-24; Version: 20
//
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).
//