ID   GM14889
AC   CVCL_BX00
DR   CLO; CLO_0032076
DR   Coriell; GM14889
DR   Wikidata; Q54847495
CC   Sequence variation: Mutation; HGNC; HGNC:8896; PGK1; Simple; p.Asp164Val (c.491A>T) (D163V); ClinVar=VCV000009954; Zygosity=Hemizygous (Coriell=GM14889).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C126738; Phosphoglycerate kinase 1 deficiency
DI   ORDO; Orphanet_713; Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   11Y
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 12
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