ID   GM25169
AC   CVCL_HL37
DR   Coriell; GM25169
DR   Wikidata; Q54853836
CC   Sequence variation: Mutation; HGNC; HGNC:4289; GK; Unexplicit; IVS7-2A>G (Ex8del); Zygosity=Hemizygous; Note=Splice acceptor mutation (Coriell=GM25169).
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: 01-12-16; Last updated: 19-12-24; Version: 13
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