ID   GM25162
AC   CVCL_HL35
DR   Coriell; GM25162
DR   Wikidata; Q54853834
CC   Sequence variation: Mutation; HGNC; HGNC:4289; GK; Simple; p.Gln444Arg (c.1313A>G); Zygosity=Hemizygous (Coriell=GM25162).
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   36Y
CA   Transformed cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 12
//