ID   GM17430
AC   CVCL_1Y33
DR   CLO; CLO_0012309
DR   Coriell; GM17430
DR   Wikidata; Q54848867
CC   Sequence variation: Mutation; HGNC; HGNC:4135; GALT; Simple; p.Gln188Arg (c.563A>G); ClinVar=VCV000003614; Zygosity=Heterozygous (Coriell=GM17430).
CC   Sequence variation: Mutation; HGNC; HGNC:4135; GALT; Simple; p.Arg333Trp (c.997C>T); ClinVar=VCV000003610; Zygosity=Heterozygous (Coriell=GM17430).
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   Age unspecified
CA   Transformed cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 15
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