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Cellosaurus GM23641 (CVCL_AY78)

[Text version]
Cell line name GM23641
Accession CVCL_AY78
Resource Identification Initiative To cite this cell line use: GM23641 (RRID:CVCL_AY78)
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.Val178Met (c.532G>A); ClinVar=VCV000002402; Zygosity=Heterozygous (Coriell=GM23641).
  • Mutation; HGNC; HGNC:746; ASL; Simple; p.Met256Thr (c.767T>C); ClinVar=VCV002066939; Zygosity=Heterozygous (Coriell=GM23641).
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 3Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM23641
Encyclopedic resources Wikidata; Q54853178
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number13