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Cellosaurus GM23809 (CVCL_5M36)

[Text version]
Cell line name GM23809
Accession CVCL_5M36
Resource Identification Initiative To cite this cell line use: GM23809 (RRID:CVCL_5M36)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:758; ASS1; Simple; p.Arg344Ter (c.1030C>T); ClinVar=VCV000188885; Zygosity=Heterozygous (Coriell=GM23809).
  • Mutation; HGNC; HGNC:758; ASS1; Simple; p.Arg363Trp (c.1087C>T); ClinVar=VCV000006328; Zygosity=Heterozygous (Coriell=GM23809).
Disease Citrullinemia type I (NCIt: C150601)
Citrullinemia type I (ORDO: Orphanet_247525)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 7Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM23809
Encyclopedic resources Wikidata; Q54853323
Entry history
Entry creation14-Dec-2015
Last entry update19-Dec-2024
Version number14