ID   GM25198
AC   CVCL_VJ11
DR   Coriell; GM25198
DR   Wikidata; Q93930342
CC   Sequence variation: Mutation; HGNC; HGNC:4289; GK; Simple; p.Glu459Lys (c.1357G>A); Zygosity=Hemizygous (Coriell=GM25198).
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   2M
CA   Transformed cell line
DT   Created: 07-09-18; Last updated: 19-12-24; Version: 9
//