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Cellosaurus GM23778 (CVCL_4T52)

[Text version]
Cell line name GM23778
Accession CVCL_4T52
Resource Identification Initiative To cite this cell line use: GM23778 (RRID:CVCL_4T52)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:2212; COL6A2; Simple; c.1053+1G>T (IVS11+1G>T); Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM23778).
Disease Ullrich congenital muscular dystrophy (NCIt: C123438)
Congenital muscular dystrophy, Ullrich type (ORDO: Orphanet_75840)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 9Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM23778 - Discontinued
Encyclopedic resources Wikidata; Q54853303
Entry history
Entry creation22-Sep-2015
Last entry update19-Dec-2024
Version number13