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Cellosaurus GM23428 (CVCL_JA56)

[Text version]
Cell line name GM23428
Accession CVCL_JA56
Resource Identification Initiative To cite this cell line use: GM23428 (RRID:CVCL_JA56)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:9118; PMP22; Simple; p.His12Arg (c.35A>G); ClinVar=VCV000835185; Zygosity=Heterozygous (Coriell=GM23428).
Disease Charcot-Marie-Tooth disease, type 3 (NCIt: C133087)
Dejerine-Sottas syndrome (ORDO: Orphanet_64748)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 37Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM23428
Encyclopedic resources Wikidata; Q54853071
Entry history
Entry creation15-May-2017
Last entry update10-Apr-2025
Version number11