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Cellosaurus GM24384 (CVCL_4T71)

[Text version]
Cell line name GM24384
Accession CVCL_4T71
Resource Identification Initiative To cite this cell line use: GM24384 (RRID:CVCL_4T71)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:2211; COL6A1; Simple; p.Gly284Arg (c.850G>A); ClinVar=VCV000017180; Zygosity=Heterozygous (Coriell=GM24384).
  • Mutation; HGNC; HGNC:2211; COL6A1; Simple; c.1182+3G>A; ClinVar=VCV000162526; Zygosity=Heterozygous (Coriell=GM24384).
  • Mutation; HGNC; HGNC:2211; COL6A1; Simple; c.1814-6C>G; ClinVar=VCV000093830; Zygosity=Heterozygous (Coriell=GM24384).
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 8Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM24384
Encyclopedic resources Wikidata; Q54853745
Entry history
Entry creation22-Sep-2015
Last entry update19-Dec-2024
Version number12