Cellosaurus logo
expasy logo

Cellosaurus GM23851 (CVCL_5M25)

[Text][XML][JSON]
Cell line name GM23851
Accession CVCL_5M25
Resource Identification Initiative To cite this cell line use: GM23851 (RRID:CVCL_5M25)
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.Val269Met (c.805G>A); ClinVar=VCV000193968; Zygosity=Heterozygous (Coriell=GM23851).
  • Mutation; HGNC; HGNC:758; ASS1; Simple; p.Arg272Cys (c.814C>T); ClinVar=VCV000371132; Zygosity=Heterozygous (Coriell=GM23851).
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 1Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM23851
Encyclopedic resources Wikidata; Q54853375
Entry history
Entry creation14-Dec-2015
Last entry update19-Dec-2024
Version number14