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Cellosaurus GM27115 (CVCL_WP09)

[Text version]
Cell line name GM27115
Accession CVCL_WP09
Resource Identification Initiative To cite this cell line use: GM27115 (RRID:CVCL_WP09)
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.Met1fs (c.-11_c.81del92); ClinVar=VCV000373075; Zygosity=Heterozygous (Coriell=GM27115).
  • Mutation; HGNC; HGNC:15999; SELENON; Simple; p.Gly315Ser (c.943G>A); ClinVar=VCV000004496; Zygosity=Heterozygous (Coriell=GM27115).
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 23Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27115
Encyclopedic resources Wikidata; Q93933012
Entry history
Entry creation05-Jul-2019
Last entry update19-Dec-2024
Version number10