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Cellosaurus GM14889 (CVCL_BX00)

[Text version]
Cell line name GM14889
Accession CVCL_BX00
Resource Identification Initiative To cite this cell line use: GM14889 (RRID:CVCL_BX00)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:8896; PGK1; Simple; p.Asp164Val (c.491A>T) (D163V); ClinVar=VCV000009954; Zygosity=Hemizygous (Coriell=GM14889).
Disease Phosphoglycerate kinase 1 deficiency (NCIt: C126738)
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (ORDO: Orphanet_713)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 11Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM14889
Cell line databases/resources CLO; CLO_0032076
Encyclopedic resources Wikidata; Q54847495
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number12