Cellosaurus logo
expasy logo

Cellosaurus GM27123 (CVCL_A2PX)

[Text][XML][JSON]
Cell line name GM27123
Accession CVCL_A2PX
Resource Identification Initiative To cite this cell line use: GM27123 (RRID:CVCL_A2PX)
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=GM27123).
Disease Bethlem myopathy 1 (NCIt: C126688)
Bethlem myopathy (ORDO: Orphanet_610)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_F0ZG (GM29488)
Sex of cell Female
Age at sampling 41Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27123
Encyclopedic resources Wikidata; Q105507089
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number6