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Cellosaurus GM25494 (CVCL_HQ48)

[Text version]
Cell line name GM25494
Accession CVCL_HQ48
Resource Identification Initiative To cite this cell line use: GM25494 (RRID:CVCL_HQ48)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:30372; KLHL40; Simple; p.Arg547His (c.1640G>A); ClinVar=VCV000566161; Zygosity=Heterozygous (Coriell=GM25494).
Disease Nemaline myopathy 8 (NCIt: C129871)
Severe congenital nemaline myopathy (ORDO: Orphanet_171430)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 35Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM25494
Encyclopedic resources Wikidata; Q54853985
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number11