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Cellosaurus GM23363 (CVCL_JF24)

[Text version]
Cell line name GM23363
Accession CVCL_JF24
Resource Identification Initiative To cite this cell line use: GM23363 (RRID:CVCL_JF24)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:9202; POMT1; Simple; p.Ser29Arg (c.85A>C); Zygosity=Heterozygous (Coriell=GM23363).
  • Mutation; HGNC; HGNC:9202; POMT1; Simple; p.Arg622Ter (c.1864C>T); Zygosity=Heterozygous (Coriell=GM23363).
Disease Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 1 (NCIt: C133730)
POMT1-related limb-girdle muscular dystrophy R11 (ORDO: Orphanet_86812)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Age unspecified
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM23363
Encyclopedic resources Wikidata; Q54853022
Entry history
Entry creation15-May-2017
Last entry update19-Dec-2024
Version number12