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Cellosaurus GM23652 (CVCL_BX05)

[Text version]
Cell line name GM23652
Accession CVCL_BX05
Resource Identification Initiative To cite this cell line use: GM23652 (RRID:CVCL_BX05)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:6511; LARGE1; Simple; p.Glu509Lys (c.1525G>A); ClinVar=VCV000006216; Zygosity=Heterozygous (Coriell=GM23652).
  • Mutation; HGNC; HGNC:6511; LARGE1; Unexplicit; Large deletion; Zygosity=Heterozygous (Coriell=GM23652).
Disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6 (NCIt: C126743)
Congenital muscular dystrophy with intellectual disability (ORDO: Orphanet_370968)
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; GM23652
Encyclopedic resources Wikidata; Q54853197
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number12