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Cellosaurus GM27900 (CVCL_ZI04)

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Cell line name GM27900
Accession CVCL_ZI04
Resource Identification Initiative To cite this cell line use: GM27900 (RRID:CVCL_ZI04)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:29331; EPG5; Simple; p.Trp865Ter (c.2595G>A); Zygosity=Heterozygous (Coriell=GM27900).
  • Mutation; HGNC; HGNC:29331; EPG5; Simple; p.Leu1067Tyrfs*10 (c.3200delT); Zygosity=Heterozygous (Coriell=GM27900).
  • Mutation; HGNC; HGNC:13890; ITCH; Simple; c.337+2T>C; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM27900).
Disease Vici syndrome (NCIt: C138174)
Vici syndrome (ORDO: Orphanet_1493)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_ZI03 ! GM27898
Sex of cell Female
Age at sampling 4M
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27900
Encyclopedic resources Wikidata; Q98126641
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8