ID   GM17429
AC   CVCL_HJ83
DR   Coriell; GM17429
DR   Wikidata; Q54848866
CC   Sequence variation: Mutation; HGNC; HGNC:4135; GALT; Simple; p.Gln188Arg (c.563A>G); ClinVar=VCV000003614; Zygosity=Homozygous (Coriell=GM17429).
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   NCIt; C34854; Noonan syndrome
DI   ORDO; Orphanet_352; Galactosemia
DI   ORDO; Orphanet_648; Noonan syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Transformed cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 11
//