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). //