ID   GM04391
AC   CVCL_4N44
DR   CLO; CLO_0019701
DR   Coriell; GM04391
DR   Wikidata; Q54838510
RX   CelloPub=CLPUB00447;
CC   Sequence variation: Mutation; HGNC; 4296; GLA; Simple; p.Asn215Ser (c.644A>G); ClinVar=VCV000010730; Zygosity=Hemizygous (Coriell=GM04391).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84701; Fabry disease
DI   ORDO; Orphanet_324; Fabry disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   41Y
CA   Transformed cell line
DT   Created: 22-09-15; Last updated: 30-01-24; Version: 13
//
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).
//