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Cellosaurus GM24369 (CVCL_AZ51)

[Text version]
Cell line name GM24369
Accession CVCL_AZ51
Resource Identification Initiative To cite this cell line use: GM24369 (RRID:CVCL_AZ51)
Comments Population: Jewish; Ashkenazi.
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=GM24369).
Disease Rigid spine muscular dystrophy 1 (NCIt: C126691)
Rigid spine syndrome (ORDO: Orphanet_97244)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_AZ47 ! GM23651
Sex of cell Male
Age at sampling 7Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM24369
Encyclopedic resources Wikidata; Q54853740
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number12