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Cellosaurus GM26073 (CVCL_RT99)

[Text version]
Cell line name GM26073
Accession CVCL_RT99
Resource Identification Initiative To cite this cell line use: GM26073 (RRID:CVCL_RT99)
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; c.1297-1G>T; Zygosity=Heterozygous; Note=Splice acceptor mutation. De novo mutation (Coriell=GM26073).
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 1Y10M
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM26073
Encyclopedic resources Wikidata; Q54854067
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number11