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Cellosaurus GM24415 (CVCL_4T74)

[Text version]
Cell line name GM24415
Accession CVCL_4T74
Resource Identification Initiative To cite this cell line use: GM24415 (RRID:CVCL_4T74)
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.Gly311Asp (c.932G>A); ClinVar=VCV000289651; Zygosity=Heterozygous (Coriell=GM24415).
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 13Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM24415
Encyclopedic resources Wikidata; Q54853756
Entry history
Entry creation22-Sep-2015
Last entry update19-Dec-2024
Version number12