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Cellosaurus GM24224 (CVCL_4T59)

[Text version]
Cell line name GM24224
Accession CVCL_4T59
Resource Identification Initiative To cite this cell line use: GM24224 (RRID:CVCL_4T59)
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; p.Arg784His (c.2351G>A); ClinVar=VCV000093938; Zygosity=Heterozygous (Coriell=GM24224).
  • Mutation; HGNC; HGNC:2212; COL6A2; Simple; c.1770+1delG; ClinVar=VCV000289581; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM24224).
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_4T60 ! GM24231
Sex of cell Male
Age at sampling 10Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM24224 - Discontinued
Encyclopedic resources Wikidata; Q54853641
Entry history
Entry creation22-Sep-2015
Last entry update19-Dec-2024
Version number13