Cellosaurus logo
expasy logo

Cellosaurus GM26267 (CVCL_LP10)

[Text version]
Cell line name GM26267
Accession CVCL_LP10
Resource Identification Initiative To cite this cell line use: GM26267 (RRID:CVCL_LP10)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:129; ACTA1; Simple; p.Glu95Aspfs*32 (c.285_286delGC); Zygosity=Heterozygous (Coriell=GM26267).
  • Mutation; HGNC; HGNC:129; ACTA1; Simple; p.Lys215Met (c.644A>T); Zygosity=Heterozygous (Coriell=GM26267).
Disease Nemaline myopathy 3 (NCIt: C129870)
Typical nemaline myopathy (ORDO: Orphanet_171436)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 3Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM26267
Encyclopedic resources Wikidata; Q54854099
Entry history
Entry creation15-Nov-2017
Last entry update19-Dec-2024
Version number11