Cellosaurus logo
expasy logo

Cellosaurus GM24231 (CVCL_4T60)

[Text][XML][JSON]
Cell line name GM24231
Accession CVCL_4T60
Resource Identification Initiative To cite this cell line use: GM24231 (RRID:CVCL_4T60)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2212; COL6A2; Simple; c.1770+1delG; ClinVar=VCV000289581; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM24231).
  • Mutation; HGNC; HGNC:2212; COL6A2; Simple; p.Arg784His (c.2351G>A); ClinVar=VCV000093938; Zygosity=Heterozygous (Coriell=GM24231).
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_4T59 ! GM24224
Sex of cell Male
Age at sampling 10Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM24231
Encyclopedic resources Wikidata; Q54853644
Entry history
Entry creation22-Sep-2015
Last entry update19-Dec-2024
Version number14