ID   GM03172
AC   CVCL_N004
SY   GM17372
DR   CLO; CLO_0013544
DR   CLO; CLO_0013697
DR   BioSample; SAMN00808270
DR   Coriell; GM03172
DR   Coriell; GM17372
DR   Wikidata; Q54837902
RX   CelloPub=CLPUB00447;
CC   Part of: Human variation panel.
CC   Population: Caucasian; Greek.
CC   Sequence variation: Mutation; HGNC; 4057; G6PD; Simple; p.Ser188Phe (c.653C>T); ClinVar=VCV000100057; Zygosity=Unspecified (Coriell=GM03172).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C98933; Glucose-6-phosphate dehydrogenase deficiency
DI   ORDO; Orphanet_466026; Class I glucose-6-phosphate dehydrogenase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   39Y
CA   Finite cell line
DT   Created: 05-11-13; Last updated: 30-01-24; Version: 15
//
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).
//