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Cellosaurus GM23308 (CVCL_4T46)

[Text version]
Cell line name GM23308
Accession CVCL_4T46
Resource Identification Initiative To cite this cell line use: GM23308 (RRID:CVCL_4T46)
Comments Population: Korean.
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.856-3C>G (IVS6-3C>G); Zygosity=Heterozygous (Coriell=GM23308).
  • Mutation; HGNC; HGNC:2212; COL6A2; Simple; p.Lys796Ter (c.2386A>T); Zygosity=Heterozygous (Coriell=GM23308).
Disease Ullrich congenital muscular dystrophy (NCIt: C123438)
Congenital muscular dystrophy, Ullrich type (ORDO: Orphanet_75840)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_4T61 ! GM24232
Sex of cell Female
Age at sampling 4Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM23308
Encyclopedic resources Wikidata; Q54852986
Entry history
Entry creation22-Sep-2015
Last entry update19-Dec-2024
Version number12