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Cellosaurus GM23650 (CVCL_BX04)

[Text version]
Cell line name GM23650
Accession CVCL_BX04
Resource Identification Initiative To cite this cell line use: GM23650 (RRID:CVCL_BX04)
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.Arg401Cys (c.1201C>T); ClinVar=VCV000133029; Zygosity=Heterozygous (Coriell=GM23650).
  • Mutation; HGNC; HGNC:10483; RYR1; Simple; p.Pro2488Hisfs*39 (c.7463_7475delCAAAGATGTCAGC); ClinVar=VCV000197559; Zygosity=Heterozygous (Coriell=GM23650).
Disease Central core disease (NCIt: C83010)
Central core disease (ORDO: Orphanet_597)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 1M
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM23650
Encyclopedic resources Wikidata; Q54853194
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number12