ID   GM02769
AC   CVCL_0Q51
DR   CLO; CLO_0014801
DR   BioSample; SAMN00808096
DR   Coriell; GM02769
DR   Wikidata; Q54837677
RX   CelloPub=CLPUB00447;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4296; GLA; Simple; p.Arg220Ter (c.658C>T); ClinVar=VCV000167140; Zygosity=Hemizygous (Coriell=GM02769).
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   18Y
CA   Finite cell line
DT   Created: 10-04-15; Last updated: 30-01-24; Version: 14
//
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).
//