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Cellosaurus GM17723 (CVCL_AB41)

[Text version]
Cell line name GM17723
Accession CVCL_AB41
Resource Identification Initiative To cite this cell line use: GM17723 (RRID:CVCL_AB41)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:10933; SLC17A5; Simple; p.Arg39Cys (c.115C>T); ClinVar=VCV000005615; Zygosity=Homozygous (Coriell=GM17723).
Disease Sialic acid storage disease (NCIt: C85067)
Free sialic acid storage disease (ORDO: Orphanet_834)
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; GM17723
Cell line databases/resources CLO; CLO_0016990
Encyclopedic resources Wikidata; Q54849121
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number12