ID   GM25168
AC   CVCL_A5PG
DR   Coriell; GM25168
DR   Wikidata; Q107115169
CC   Sequence variation: Mutation; HGNC; HGNC:4289; GK; Simple; p.Trp114Glnfs*7 (c.338-1G>A) (IVS4-1G>A) (Ex5del); Zygosity=Hemizygous; Note=Splice acceptor mutation (Coriell=GM25168).
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: 20-05-21; Last updated: 19-12-24; Version: 6
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