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Cellosaurus GM27239 (CVCL_A2QB)

[Text version]
Cell line name GM27239
Accession CVCL_A2QB
Resource Identification Initiative To cite this cell line use: GM27239 (RRID:CVCL_A2QB)
Comments Population: Caucasian and Pacific; Hawaiian.
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.922+1G>A; ClinVar=VCV001711453; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM27239).
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 9Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27239
Encyclopedic resources Wikidata; Q105507102
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number7