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Cellosaurus GM29488 (CVCL_F0ZG)

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Cell line name GM29488
Synonyms GM29488*B
Accession CVCL_F0ZG
Resource Identification Initiative To cite this cell line use: GM29488 (RRID:CVCL_F0ZG)
Comments Population: Caucasian; Swiss.
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; c.1003-1G>A; ClinVar=VCV000286179; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM29488).
Disease Bethlem myopathy 1 (NCIt: C126688)
Bethlem myopathy (ORDO: Orphanet_610)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A2PX (GM27123)
Sex of cell Female
Age at sampling 41Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM29488
Entry history
Entry creation27-Nov-2025
Last entry update27-Nov-2025
Version number1