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Cellosaurus GM27108 (CVCL_WP08)

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Cell line name GM27108
Accession CVCL_WP08
Resource Identification Initiative To cite this cell line use: GM27108 (RRID:CVCL_WP08)
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=GM27108).
Disease Bethlem myopathy 1 (NCIt: C126688)
Bethlem myopathy (ORDO: Orphanet_610)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_F0ZF (GM29484)
Sex of cell Female
Age at sampling 18Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27108
Encyclopedic resources Wikidata; Q93933011
Entry history
Entry creation05-Jul-2019
Last entry update27-Nov-2025
Version number10