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Cellosaurus GM24523 (CVCL_HK54)

[Text version]
Cell line name GM24523
Accession CVCL_HK54
Resource Identification Initiative To cite this cell line use: GM24523 (RRID:CVCL_HK54)
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; c.12018+1G>A; ClinVar=VCV000265494; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM24523).
  • Mutation; HGNC; HGNC:7720; NEB; Simple; p.Met8154Ilefs*13 (c.24458_24461dupAGAT); ClinVar=VCV000551882; Zygosity=Heterozygous (Coriell=GM24523).
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 4Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM24523
Encyclopedic resources Wikidata; Q54853777
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number12