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

Abstract 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.