Cellosaurus logo
expasy logo

Cellosaurus GM23681 (CVCL_4T49)

[Text version]
Cell line name GM23681
Accession CVCL_4T49
Resource Identification Initiative To cite this cell line use: GM23681 (RRID:CVCL_4T49)
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; p.Gly301Ser (c.901G>A); ClinVar=VCV000283758; Zygosity=Heterozygous (Coriell=GM23681).
  • Mutation; HGNC; HGNC:2212; COL6A2; Simple; p.Pro518Ser (c.1552C>T); ClinVar=VCV000093911; Zygosity=Heterozygous (Coriell=GM23681).
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 16Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM23681
Encyclopedic resources Wikidata; Q54853222
Entry history
Entry creation22-Sep-2015
Last entry update19-Dec-2024
Version number13