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Cellosaurus GM27127 (CVCL_WP12)

[Text version]
Cell line name GM27127
Accession CVCL_WP12
Resource Identification Initiative To cite this cell line use: GM27127 (RRID:CVCL_WP12)
Comments Population: Chinese.
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.Arg268Cys (c.802C>T); ClinVar=VCV000657794; Zygosity=Heterozygous (Coriell=GM27127).
  • Mutation; HGNC; HGNC:15999; SELENON; Simple; p.Arg469Gln (c.1406G>A); ClinVar=VCV000461629; Zygosity=Heterozygous (Coriell=GM27127).
Disease Rigid spine muscular dystrophy 1 (NCIt: C126691)
Rigid spine syndrome (ORDO: Orphanet_97244)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_D6WL (GM29106)
Sex of cell Male
Age at sampling 37Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27127
Encyclopedic resources Wikidata; Q93933019
Entry history
Entry creation05-Jul-2019
Last entry update19-Dec-2024
Version number10