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Cellosaurus GM26093 (CVCL_IU32)

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Cell line name GM26093
Accession CVCL_IU32
Resource Identification Initiative To cite this cell line use: GM26093 (RRID:CVCL_IU32)
Comments Population: Chinese and Jewish; Ashkenazi.
Derived from site: In situ; Hip, skin; UBERON=UBERON_0001554.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:7720; NEB; Simple; c.9619-2A>G; ClinVar=VCV000379231; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM26093).
  • Mutation; HGNC; HGNC:7720; NEB; Simple; p.His8159Glnfs*8 (c.24473_24476dupAACA); Zygosity=Heterozygous (Coriell=GM26093).
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_HK59 ! GM25172
Sex of cell Male
Age at sampling 6Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM26093
Encyclopedic resources Wikidata; Q54854072
Entry history
Entry creation03-Mar-2017
Last entry update19-Dec-2024
Version number13