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Cellosaurus GM25172 (CVCL_HK59)

[Text version]
Cell line name GM25172
Accession CVCL_HK59
Resource Identification Initiative To cite this cell line use: GM25172 (RRID:CVCL_HK59)
Comments Population: Chinese and Jewish; Ashkenazi.
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.9619-2A>G; ClinVar=VCV000379231; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM25172).
  • Mutation; HGNC; HGNC:7720; NEB; Simple; p.His8159Glnfs*8 (c.24473_24476dupAACA); Zygosity=Heterozygous (Coriell=GM25172).
Disease Nemaline myopathy 2 (NCIt: C118784)
Typical nemaline myopathy (ORDO: Orphanet_171436)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_IU32 ! GM26093
Sex of cell Male
Age at sampling 4Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM25172
Encyclopedic resources Wikidata; Q54853837
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number13