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Cellosaurus GM23436 (CVCL_AY70)

[Text version]
Cell line name GM23436
Accession CVCL_AY70
Resource Identification Initiative To cite this cell line use: GM23436 (RRID:CVCL_AY70)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:746; ASL; Simple; p.Arg12Gln (c.35G>A); ClinVar=VCV000092360; Zygosity=Heterozygous (Coriell=GM23436).
  • Mutation; HGNC; HGNC:746; ASL; Simple; p.Gly280Glufs*4 (c.839delG); Zygosity=Heterozygous (Coriell=GM23436).
Disease Argininosuccinic aciduria (NCIt: C84569)
Argininosuccinic aciduria (ORDO: Orphanet_23)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 13Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM23436
Encyclopedic resources Wikidata; Q54853077
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number13