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

• Published in: Stem cell research Vol. 17; no. 1; pp. 69 - 71
• Main Authors: Nemes, Csilla, Varga, Eszter, Táncos, Zsuzsanna, Bock, István, Francz, Barbara, Kobolák, Julianna, Dinnyés, András
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01-07-2016; Elsevier
• ISSN: 1873-5061; 1876-7753
• DOI: 10.1016/j.scr.2016.05.019

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.