ID   GM02772
AC   CVCL_4N33
SY   GM 2772; GM02772A
DR   CLO; CLO_0014797
DR   BioSample; SAMN00808102
DR   Coriell; GM02772
DR   Wikidata; Q54837680
RX   CelloPub=CLPUB00447;
RX   PubMed=6303650;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4296; GLA; Simple; p.Arg220Ter (c.658C>T); ClinVar=VCV000167140; Zygosity=Heterozygous (from familial inference of GM02769).
CC   Cell type: Fibroblast; CL=CL_0000057.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   38Y
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 29-06-23; Version: 9
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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   PubMed=6303650; DOI=10.1111/j.1399-0004.1983.tb01874.x;
RA   Jongkind J.F., Verkerk A., Niermeijer M.F.;
RT   "Detection of Fabry's disease heterozygotes by enzyme analysis in
RT   single fibroblasts after cell sorting.";
RL   Clin. Genet. 23:261-266(1983).
//