Details

Autor(en) / Beteiligte

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

Titel

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

Ist Teil von

• Stem cell research, 2016-07, Vol.17 (1), p.69-71

Ort / Verlag

England: Elsevier B.V

Erscheinungsjahr

2016

Link zum Volltext

Quelle

EZB Electronic Journals Library

Beschreibungen/Notizen

• 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.