ID   GM25201
AC   CVCL_D2YL
DR   Coriell; GM25201
DR   Wikidata; Q127380876
CC   Sequence variation: Mutation; HGNC; HGNC:4289; GK; Simple; p.Gly264Arg (c.790G>A) (p.Gly258Arg, c.772G>A); Zygosity=Hemizygous (Coriell=GM25201).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C124845; Hyperglycerolemia
DI   ORDO; Orphanet_408; Isolated glycerol kinase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Transformed cell line
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 3
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