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Cellosaurus GM27122 (CVCL_WP10)

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Cell line name GM27122
Accession CVCL_WP10
Resource Identification Initiative To cite this cell line use: GM27122 (RRID:CVCL_WP10)
Comments Population: Jewish.
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=Homozygous (Coriell=GM27122).
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_F0Z7 (GM29372)
Sex of cell Female
Age at sampling 47Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27122
Encyclopedic resources Wikidata; Q93933015
Entry history
Entry creation05-Jul-2019
Last entry update19-Dec-2024
Version number10