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Cellosaurus GM25395 (CVCL_JF30)

[Text version]
Cell line name GM25395
Accession CVCL_JF30
Resource Identification Initiative To cite this cell line use: GM25395 (RRID:CVCL_JF30)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:13830; CNTNAP2; Simple; p.Asp1237Ilefs*17 (c.3709delG); ClinVar=VCV000005490; Zygosity=Homozygous (Coriell=GM25395).
Disease Cortical dysplasia-focal epilepsy syndrome (NCIt: C133743)
Cortical dysplasia-focal epilepsy syndrome (ORDO: Orphanet_163681)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 4Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM25395
Encyclopedic resources Wikidata; Q54853924
Entry history
Entry creation15-May-2017
Last entry update19-Dec-2024
Version number13