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Cellosaurus GM29484 (CVCL_F0ZF)

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Cell line name GM29484
Synonyms GM29484*B
Accession CVCL_F0ZF
Resource Identification Initiative To cite this cell line use: GM29484 (RRID:CVCL_F0ZF)
Comments Population: Caucasian; Danish/English/Polish.
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.Gly290Trp (c.868G>T); ClinVar=VCV000476441; Zygosity=Heterozygous (Coriell=GM29484).
Disease Bethlem myopathy 1 (NCIt: C126688)
Bethlem myopathy (ORDO: Orphanet_610)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_WP08 (GM27108)
Sex of cell Female
Age at sampling 18Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM29484
Entry history
Entry creation27-Nov-2025
Last entry update27-Nov-2025
Version number1