ID   GM02774
AC   CVCL_4N34
SY   GM 2774
DR   CLO; CLO_0014796
DR   BioSample; SAMN00808104
DR   Coriell; GM02774
DR   Wikidata; Q54837681
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 (Coriell=GM02774).
CC   Cell type: Fibroblast; CL=CL_0000057.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   47Y
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 30-01-24; Version: 10
//
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=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).
//