ID   GM17435
AC   CVCL_1Y38
DR   CLO; CLO_0012898
DR   Coriell; GM17435
DR   Wikidata; Q54848872
CC   Sequence variation: Mutation; HGNC; HGNC:4135; GALT; Simple; p.Gln188Arg (c.563A>G); ClinVar=VCV000003614; Zygosity=Heterozygous (Coriell=GM17435).
CC   Sequence variation: Mutation; HGNC; HGNC:4135; GALT; Simple; p.Asn314Asp (c.940A>G); ClinVar=VCV000003613; Zygosity=Heterozygous (Coriell=GM17435).
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   Female
AG   Age unspecified
CA   Transformed cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 14
//