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Cellosaurus GM23780 (CVCL_BX10)

[Text version]
Cell line name GM23780
Accession CVCL_BX10
Resource Identification Initiative To cite this cell line use: GM23780 (RRID:CVCL_BX10)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:6636; LMNA; Simple; p.Leu35Pro (c.104T>C); ClinVar=VCV000066765; Zygosity=Heterozygous (Coriell=GM23780).
Disease Emery-Dreifuss muscular dystrophy 2, autosomal dominant (NCIt: C126745)
Autosomal dominant Emery-Dreifuss muscular dystrophy (ORDO: Orphanet_98853)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 14Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM23780
Encyclopedic resources Wikidata; Q54853304
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number11