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Cellosaurus GM23929 (CVCL_Y603)

[Text version]
Cell line name GM23929
Accession CVCL_Y603
Resource Identification Initiative To cite this cell line use: GM23929 (RRID:CVCL_Y603)
Comments 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; p.Trp5885Ter (c.17654G>A) (p.Trp4184Ter, c.12551G>A); ClinVar=VCV001076162; Zygosity=Heterozygous (Coriell=GM23929).
  • Mutation; HGNC; HGNC:7720; NEB; Simple; p.Phe8257Leufs*10 (c.24771delT) (p.Phe6366Leufs*10, c.19098delT); ClinVar=VCV000279999; Zygosity=Heterozygous (Coriell=GM23929).
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 5Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM23929
Encyclopedic resources Wikidata; Q54853453
Entry history
Entry creation10-Apr-2015
Last entry update19-Dec-2024
Version number14