ID   GM02109
AC   CVCL_W621
SY   GM-2109; GM 2109; GM02109B
DR   CLO; CLO_0031819
DR   BioSample; SAMN00807492
DR   Coriell; GM02109
DR   Wikidata; Q54837304
RX   CelloPub=CLPUB00447;
RX   PubMed=6782865;
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; HGNC:6617; LIPA; Simple; p.Arg65Ter (c.193C>T); ClinVar=VCV000558291; Zygosity=Heterozygous (Coriell=GM02109).
CC   Sequence variation: Mutation; HGNC; HGNC:6617; LIPA; Simple; p.His86Tyr (c.256C>T); ClinVar=VCV000555658; Zygosity=Heterozygous (Coriell=GM02109).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C61271; Wolman disease
DI   ORDO; Orphanet_75233; Wolman disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3M
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 19
//
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   PubMed=6782865; PMCID=PMC1684950;
RA   Burton B.K., Reed S.P.;
RT   "Acid lipase cross-reacting material in Wolman disease and cholesterol
RT   ester storage disease.";
RL   Am. J. Hum. Genet. 33:203-208(1981).
//