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Cellosaurus GM27120 (CVCL_A2PW)

[Text version]
Cell line name GM27120
Accession CVCL_A2PW
Resource Identification Initiative To cite this cell line use: GM27120 (RRID:CVCL_A2PW)
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.Asn238Lysfs*63 (c.713dupA) (c.713_714insA); ClinVar=VCV000004494; Zygosity=Heterozygous (Coriell=GM27120).
  • Mutation; HGNC; HGNC:15999; SELENON; Simple; p.Arg466Gln (c.1397G>A); ClinVar=VCV000004492; Zygosity=Heterozygous (Coriell=GM27120).
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 34Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27120
Encyclopedic resources Wikidata; Q105507088
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number6