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Cellosaurus GM24028 (CVCL_AE11)

[Text version]
Cell line name GM24028
Accession CVCL_AE11
Resource Identification Initiative To cite this cell line use: GM24028 (RRID:CVCL_AE11)
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.Asp120Glu (c.360C>A); Zygosity=Heterozygous (Coriell=GM24028).
  • Mutation; HGNC; HGNC:746; ASL; Simple; p.Arg217Ter (c.649C>T); ClinVar=VCV000203615; Zygosity=Heterozygous (Coriell=GM24028).
Disease Argininosuccinic aciduria (NCIt: C84569)
Argininosuccinic aciduria (ORDO: Orphanet_23)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 1Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM24028
Encyclopedic resources Wikidata; Q54853496
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number13