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Cellosaurus GM23868 (CVCL_BX13)

[Text version]
Cell line name GM23868
Accession CVCL_BX13
Resource Identification Initiative To cite this cell line use: GM23868 (RRID:CVCL_BX13)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:17997; FKRP; Simple; p.Leu276Ile (c.826C>A); ClinVar=VCV000004221; Zygosity=Homozygous (Coriell=GM23868).
Disease Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 5 (NCIt: C126739)
FKRP-related limb-girdle muscular dystrophy R9 (ORDO: Orphanet_34515)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_BX03 ! GM23630
Sex of cell Female
Age at sampling 38Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM23868
Encyclopedic resources Wikidata; Q54853406
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number12