ID   GM00881
AC   CVCL_7305
SY   GM-881
DR   CLO; CLO_0003518
DR   CLO; CLO_0029624
DR   CLDB; cl1485
DR   Coriell; GM00881
DR   Wikidata; Q54836504
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
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   17Y
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 29-06-23; Version: 17
//
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=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).
//