ID   GM11763
AC   CVCL_1Y31
DR   CLO; CLO_0021457
DR   Coriell; GM11763
DR   Wikidata; Q54845249
RX   CelloPub=CLPUB00447;
CC   Sequence variation: Mutation; HGNC; HGNC:4135; GALT; Simple; p.Gln188Arg (c.563A>G); ClinVar=VCV000003614; Zygosity=Heterozygous (Coriell=GM11763).
CC   Sequence variation: Mutation; HGNC; HGNC:4135; GALT; Simple; p.Arg333Trp (c.997C>T); ClinVar=VCV000003610; Zygosity=Heterozygous (Coriell=GM11763).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84723; Galactosemia
DI   ORDO; Orphanet_352; Galactosemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   30Y
CA   Transformed cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 17
//
RX   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon 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).
//