ID   GM25163
AC   CVCL_HL36
DR   Coriell; GM25163
DR   Wikidata; Q54853835
CC   Sequence variation: Mutation; HGNC; HGNC:4289; GK; Simple; p.Trp52Tyrfs*29 (c.259+1G>A) (IVS3+1G>A) (Ex3del); Zygosity=Hemizygous (Coriell=GM25163).
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   55Y
CA   Transformed cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 11
//