ID   GM00863
AC   CVCL_7303
SY   GM-863; GM 0863
DR   CLO; CLO_0003517
DR   CLO; CLO_0029632
DR   CLDB; cl1484
DR   Coriell; GM00863
DR   Wikidata; Q54836485
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=6782865;
CC   Sequence variation: Mutation; HGNC; 6617; LIPA; Simple; p.Thr97Arg (c.290C>G); Zygosity=Heterozygous (Coriell=GM00863).
CC   Sequence variation: Mutation; HGNC; 6617; LIPA; Simple; p.Gly118Asp (c.353G>A); Zygosity=Heterozygous (Coriell=GM00863).
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   Female
AG   11Y
CA   Finite cell line
DT   Created: 04-04-12; 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).
//
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) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//
RX   PubMed=6782865;
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).
//