Stem Cell Research (Jul 2016)

Establishment of PSEN1 mutant induced pluripotent stem cell (iPSC) line from an Alzheimer's disease (AD) female patient

  • Csilla Nemes,
  • Eszter Varga,
  • Zsuzsanna Táncos,
  • István Bock,
  • Barbara Francz,
  • Julianna Kobolák,
  • András Dinnyés

DOI
https://doi.org/10.1016/j.scr.2016.05.019
Journal volume & issue
Vol. 17, no. 1
pp. 69 – 71

Abstract

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Peripheral blood mononuclear cells (PBMCs) were collected from a clinically characterised, early onset Alzheimer's disease patient, carries a heterozygous, pathogenic single nucleotide variation (SNV) in Presenilin1 (PSEN1) gene (NM_000021.3(PSEN1):c.265G>C; ClinVar ID: 21r027). The PMBCs were reprogrammed with the human OSKM transcription factors using the Sendai-virus delivery system. The transgene-free iPSC showed pluripotency verified by immunocytochemistry for pluripotency markers and differentiated spontaneously towards the 3 germ layers in vitro. Furthermore, the iPSC line showed normal karyotype. Our model might offer a good platform to study the pathomechanism of familial AD, to identify early biomarkers and also for drug testing.