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Cellosaurus GM26181 (CVCL_A2WB)

[Text version]
Cell line name GM26181
Accession CVCL_A2WB
Resource Identification Initiative To cite this cell line use: GM26181 (RRID:CVCL_A2WB)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:7720; NEB; Simple; c.5238+1G>A; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM26181).
  • Mutation; HGNC; HGNC:7720; NEB; Simple; p.Tyr8107Cysfs*75 (c.24313_24317dupGTGTT); ClinVar=VCV000553170; Zygosity=Heterozygous (Coriell=GM26181).
Disease Nemaline myopathy 2 (NCIt: C118784)
Typical nemaline myopathy (ORDO: Orphanet_171436)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 6Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM26181
Encyclopedic resources Wikidata; Q105507044
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number6