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Cellosaurus GM24467 (CVCL_AZ55)

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Cell line name GM24467
Accession CVCL_AZ55
Resource Identification Initiative To cite this cell line use: GM24467 (RRID:CVCL_AZ55)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:15999; SELENON; Simple; p.Val48Serfs*18 (c.142delG); ClinVar=VCV002419559; Zygosity=Heterozygous (Coriell=GM24467).
  • Mutation; HGNC; HGNC:15999; SELENON; Simple; p.Gly315Ser (c.943G>A); ClinVar=VCV000004496; Zygosity=Heterozygous (Coriell=GM24467).
Disease Rigid spine muscular dystrophy 1 (NCIt: C126691)
Rigid spine syndrome (ORDO: Orphanet_97244)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 6Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM24467
Encyclopedic resources Wikidata; Q54853762
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number12