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Cellosaurus GM27898 (CVCL_ZI03)

[Text version]
Cell line name GM27898
Accession CVCL_ZI03
Resource Identification Initiative To cite this cell line use: GM27898 (RRID:CVCL_ZI03)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:29331; EPG5; Simple; p.Trp865Ter (c.2595G>A); Zygosity=Heterozygous (Coriell=GM27898).
  • Mutation; HGNC; HGNC:29331; EPG5; Simple; p.Leu1067Tyrfs*10 (c.3200delT); Zygosity=Heterozygous (Coriell=GM27898).
  • Mutation; HGNC; HGNC:13890; ITCH; Simple; c.337+2T>C; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM27898).
Disease Vici syndrome (NCIt: C138174)
Vici syndrome (ORDO: Orphanet_1493)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_ZI04 ! GM27900
Sex of cell Female
Age at sampling 4M
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM27898
Encyclopedic resources Wikidata; Q98126640
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number9