ID   GM01019
AC   CVCL_U479
SY   GM-1019; GM 1019
DR   CLO; CLO_0029495
DR   BioSample; SAMN00803565
DR   Coriell; GM01019
DR   Wikidata; Q54836605
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=7313555;
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Unspecified (Coriell=GM01019).
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   Male
AG   35Y
CA   Transformed cell line
DT   Created: 16-04-14; Last updated: 30-01-24; Version: 17
//
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).
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977).
//
RX   PubMed=7313555; DOI=10.1111/j.1365-3083.1981.tb00178.x;
RA   Simmons J.G., Fuller C.R., Buchanan P.D., Yount W.J.;
RT   "Distribution of surface, cytoplasmic and secreted IgG subclasses in
RT   human lymphoblastoid cell lines and normal peripheral blood
RT   lymphocytes.";
RL   Scand. J. Immunol. 14:1-13(1981).
//