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Cellosaurus GM17722 (CVCL_AB40)

[Text version]
Cell line name GM17722
Accession CVCL_AB40
Resource Identification Initiative To cite this cell line use: GM17722 (RRID:CVCL_AB40)
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=GM17722).
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 Female
Age at sampling 30Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM17722
Cell line databases/resources CLO; CLO_0017019
Encyclopedic resources Wikidata; Q54849120
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number12