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Cellosaurus GM25516 (CVCL_VI97)

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Cell line name GM25516
Accession CVCL_VI97
Resource Identification Initiative To cite this cell line use: GM25516 (RRID:CVCL_VI97)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:10483; RYR1; Simple; p.Arg109Trp (c.325C>T); ClinVar=VCV000012988; Zygosity=Heterozygous (Coriell=GM25516).
  • Mutation; HGNC; HGNC:10483; RYR1; Simple; p.Arg2241Ter (c.6721C>T); Zygosity=Heterozygous (Coriell=GM25516).
Disease Minicore myopathy with external ophthalmoplegia (NCIt: C150608)
Congenital multicore myopathy with external ophthalmoplegia (ORDO: Orphanet_98905)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_AD82 ! GM23800
Sex of cell Male
Age at sampling 34Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM25516
Encyclopedic resources Wikidata; Q93931854
Entry history
Entry creation07-Sep-2018
Last entry update19-Dec-2024
Version number11