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Cellosaurus GM24588 (CVCL_BX20)

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Cell line name GM24588
Accession CVCL_BX20
Resource Identification Initiative To cite this cell line use: GM24588 (RRID:CVCL_BX20)
Comments Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:17997; FKRP; Simple; p.Leu276Ile (c.826C>A); ClinVar=VCV000004221; Zygosity=Heterozygous (Coriell=GM24588).
  • Mutation; HGNC; HGNC:17997; FKRP; Simple; p.Lys291Argfs*137 (c.872delA); Zygosity=Heterozygous (Coriell=GM24588).
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)
Sex of cell Female
Age at sampling 5Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM24588
Encyclopedic resources Wikidata; Q54853789
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number12