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Cellosaurus GM27142 (CVCL_YN28)

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Cell line name GM27142
Accession CVCL_YN28
Resource Identification Initiative To cite this cell line use: GM27142 (RRID:CVCL_YN28)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:15999; SELENON; Simple; p.Trp453Cys (c.1359G>C); ClinVar=VCV000372502; Zygosity=Heterozygous (Coriell=GM27142).
  • Mutation; HGNC; HGNC:15999; SELENON; Simple; p.Glu474Aspfs*93 (c.1421_1422insC); ClinVar=VCV002100000; Zygosity=Heterozygous (Coriell=GM27142).
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 Male
Age at sampling 9Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27142
Encyclopedic resources Wikidata; Q93933033
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number10