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Cellosaurus GM25250 (CVCL_HK61)

[Text version]
Cell line name GM25250
Accession CVCL_HK61
Resource Identification Initiative To cite this cell line use: GM25250 (RRID:CVCL_HK61)
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; p.Arg2809Ter (c.8425C>T); ClinVar=VCV001213189; Zygosity=Heterozygous (Coriell=GM25250).
  • Mutation; HGNC; HGNC:7720; NEB; Simple; p.Leu8106Ter (c.24317T>A); ClinVar=VCV000551889; Zygosity=Heterozygous (Coriell=GM25250).
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_HK62 ! GM25251
Sex of cell Female
Age at sampling 5Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM25250
Encyclopedic resources Wikidata; Q54853850
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number13