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Cellosaurus GM26261 (CVCL_YP73)

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Cell line name GM26261
Accession CVCL_YP73
Resource Identification Initiative To cite this cell line use: GM26261 (RRID:CVCL_YP73)
Comments Derived from site: In situ; Thigh, skin; UBERON=UBERON_0004262.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4827; HBB; Simple; p.Glu7Val (c.20A>T) (E6V); ClinVar=VCV000015333; Zygosity=Heterozygous (Coriell=GM26261).
  • Mutation; HGNC; HGNC:7720; NEB; Simple; p.Trp5754Ter (c.17262G>A) (p.Trp4053Ter, c.12159G>A); ClinVar=VCV000373081; Zygosity=Heterozygous (Coriell=GM26261).
  • Mutation; HGNC; HGNC:7720; NEB; Simple; p.Tyr8107Asnfs*74 (c.24318_24319insAA); ClinVar=VCV000422612; Zygosity=Heterozygous (Coriell=GM26261).
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_YP72 ! GM26260
Sex of cell Male
Age at sampling 1Y9M
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM26261
Encyclopedic resources Wikidata; Q93932647
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number10