Cellosaurus logo
expasy logo

Cellosaurus GM23989 (CVCL_BW47)

[Text version]
Cell line name GM23989
Accession CVCL_BW47
Resource Identification Initiative To cite this cell line use: GM23989 (RRID:CVCL_BW47)
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; c.615+5G>A; ClinVar=VCV000021517; Zygosity=Heterozygous (Coriell=GM23989).
  • Mutation; HGNC; HGNC:10983; SLC25A13; Simple; p.Ala554Glyfs*16 (c.1638_1660dup23); ClinVar=VCV000006003; Zygosity=Heterozygous (Coriell=GM23989).
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 3Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM23989
Encyclopedic resources Wikidata; Q54853483
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number12