Cellosaurus logo
expasy logo

Cellosaurus GM24221 (CVCL_4T56)

[Text version]
Cell line name GM24221
Accession CVCL_4T56
Resource Identification Initiative To cite this cell line use: GM24221 (RRID:CVCL_4T56)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2211; COL6A1; Simple; p.Gly293Arg (c.877G>A); ClinVar=VCV000093895; Zygosity=Unspecified (Coriell=GM24221).
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 Female
Age at sampling 11Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM24221
Encyclopedic resources Wikidata; Q54853638
Entry history
Entry creation22-Sep-2015
Last entry update19-Dec-2024
Version number12