ID   GM02775
AC   CVCL_0Q52
DR   CLO; CLO_0014787
DR   BioSample; SAMN00808106
DR   Coriell; GM02775
DR   Wikidata; Q54837682
RX   CelloPub=CLPUB00447;
RX   PubMed=29982630;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4296; GLA; Simple; p.Arg220Ter (c.658C>T); ClinVar=VCV000167140; Zygosity=Hemizygous (PubMed=29982630).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C84701; Fabry disease
DI   ORDO; Orphanet_324; Fabry disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   16Y
CA   Finite cell line
DT   Created: 10-04-15; Last updated: 29-06-23; Version: 12
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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=29982630; DOI=10.1093/hmg/ddy248;
RA   Welford R.W.D., Muhlemann A., Garzotti M., Rickert V., Groenen P.M.A.,
RA   Morand O., Uceyler N., Probst M.R.;
RT   "Glucosylceramide synthase inhibition with lucerastat lowers
RT   globotriaosylceramide and lysosome staining in cultured fibroblasts
RT   from Fabry patients with different mutation types.";
RL   Hum. Mol. Genet. 27:3392-3403(2018).
//