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Cellosaurus GM26063 (CVCL_JF26)

[Text version]
Cell line name GM26063
Accession CVCL_JF26
Resource Identification Initiative To cite this cell line use: GM26063 (RRID:CVCL_JF26)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:11634; TCF4; Simple; p.Arg262Profs*3 (c.784_785insCA); ClinVar=VCV002499608; Zygosity=Heterozygous (Coriell=GM26063).
Disease Pitt-Hopkins syndrome (NCIt: C129872)
Pitt-Hopkins syndrome (ORDO: Orphanet_2896)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 3Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM26063
Encyclopedic resources Wikidata; Q54854066
Entry history
Entry creation15-May-2017
Last entry update19-Dec-2024
Version number11