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Cellosaurus GM25234 (CVCL_HL38)

[Text version]
Cell line name GM25234
Accession CVCL_HL38
Resource Identification Initiative To cite this cell line use: GM25234 (RRID:CVCL_HL38)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:4289; GK; Simple; p.Asn294Asp (c.880A>G) (p.Asn288Asp, c.862A>G); ClinVar=VCV000010948; Zygosity=Hemizygous (Coriell=GM25234).
Disease Hyperglycerolemia (NCIt: C124845)
Isolated glycerol kinase deficiency (ORDO: Orphanet_408)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 34Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM25234
Encyclopedic resources Wikidata; Q54853843
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number13