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Cellosaurus GM24391 (CVCL_4T72)

[Text version]
Cell line name GM24391
Accession CVCL_4T72
Resource Identification Initiative To cite this cell line use: GM24391 (RRID:CVCL_4T72)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2213; COL6A3; Simple; p.Gln1682Serfs*12 (c.5044delC); Zygosity=Heterozygous (Coriell=GM24391).
  • Mutation; HGNC; HGNC:2213; COL6A3; Simple; p.Gly2356Ter (c.7066G>T); Zygosity=Heterozygous (Coriell=GM24391).
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 10Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM24391
Encyclopedic resources Wikidata; Q54853748
Entry history
Entry creation22-Sep-2015
Last entry update19-Dec-2024
Version number12