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Cellosaurus GM26185 (CVCL_RU03)

[Text version]
Cell line name GM26185
Accession CVCL_RU03
Resource Identification Initiative To cite this cell line use: GM26185 (RRID:CVCL_RU03)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:10983; SLC25A13; Simple; p.Met285Profs*2 (c.852_855delTATG) (c.851_854delGTAT); ClinVar=VCV000225472; Zygosity=Heterozygous (Coriell=GM26185).
  • Mutation; HGNC; HGNC:10983; SLC25A13; Simple; p.Ala554Glyfs*16 (c.1638_1660dup23); ClinVar=VCV000006003; Zygosity=Heterozygous (Coriell=GM26185).
Disease Citrullinemia type II (NCIt: C150603)
Citrullinemia type II (ORDO: Orphanet_247585)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 10Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM26185
Encyclopedic resources Wikidata; Q54854085
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number11