Stem Cell Research (Oct 2019)

Generation of an integration-free iPSC line, ICCSICi006-A, derived from a male Alzheimer's disease patient carrying the PSEN1-G206D mutation

  • Eva Díaz-Guerra,
  • Manuel A. Oria-Muriel,
  • Elena P. Moreno-Jiménez,
  • Itziar de Rojasb,,
  • César Rodríguez,
  • Eva Rodríguez-Traver,
  • María Orera,
  • Isabel Hernándezb,,
  • Agustín Ruizb,,
  • Carlos Vicario

Journal volume & issue
Vol. 40

Abstract

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The familial form of Alzheimer's disease (FAD), which is caused by mutations in PRESENILIN 1 (PSEN1) and amyloid precursor protein (APP) genes, represents less than 5% of all AD cases and has an early-onset. We report the generation and characterization of an iPSC line derived from a FAD patient carrying the PSEN1-G206D mutation. The iPSC line maintained the original genotype, a normal karyotype, was free from Sendai viral vectors and reprogramming factors (OCT4, SOX2, KLF4 and c-MYC), presented a typical morphology, expressed endogenous pluripotency markers, and could be differentiated into ectodermal, mesodermal and endodermal cells, confirming its pluripotency.