Cellosaurus logo
expasy logo

Cellosaurus GM17726 (CVCL_BT39)

[Text][XML][JSON]
Cell line name GM17726
Accession CVCL_BT39
Resource Identification Initiative To cite this cell line use: GM17726 (RRID:CVCL_BT39)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:1480; CAPN3; Simple; p.Thr184Argfs*36 (c.550delA); ClinVar=VCV000017621; Zygosity=Heterozygous (Coriell=GM17726).
  • Mutation; HGNC; HGNC:1480; CAPN3; Simple; p.Arg490Gln (c.1469G>A); ClinVar=VCV000017622; Zygosity=Heterozygous (Coriell=GM17726).
Disease Limb-girdle muscular dystrophy type 2A (NCIt: C142079)
Autosomal recessive limb-girdle muscular dystrophy type 2A (ORDO: Orphanet_267)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 48Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM17726
Cell line databases/resources CLO; CLO_0016992
Encyclopedic resources Wikidata; Q54849123
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number13