Cellosaurus logo
expasy logo

Cellosaurus GM14890 (CVCL_4J59)

[Text version]
Cell line name GM14890
Accession CVCL_4J59
Resource Identification Initiative To cite this cell line use: GM14890 (RRID:CVCL_4J59)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:4057; G6PD; Simple; p.Ser106Cys (c.317C>G); ClinVar=VCV000242797; Zygosity=Hemizygous (Coriell=GM14890).
  • Mutation; HGNC; HGNC:4057; G6PD; Simple; p.Arg182Trp (c.544C>T); ClinVar=VCV000242750; Zygosity=Hemizygous (Coriell=GM14890).
  • Mutation; HGNC; HGNC:4057; G6PD; Simple; p.Arg198Cys (c.592C>T); ClinVar=VCV000010391; Zygosity=Hemizygous (Coriell=GM14890).
Disease Glucose-6-phosphate dehydrogenase deficiency (NCIt: C98933)
Class I glucose-6-phosphate dehydrogenase deficiency (ORDO: Orphanet_466026)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 36Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM14890
Cell line databases/resources CLO; CLO_0032078
Encyclopedic resources Wikidata; Q54847506
Entry history
Entry creation22-Sep-2015
Last entry update19-Dec-2024
Version number14