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Stem Cell Res. 2016 Jan;16(1):110-2. doi: 10.1016/j.scr.2015.12.015. Epub 2015 Dec 28.

Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying a L150P mutation in PSEN-1.

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Stem Cell Research Group, Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom 73170, Thailand.
Department of Veterinary Clinical and Animal Sciences, Section for Anatomy & Biochemistry, University of Copenhagen, Groennegaardsvej 7, Frederiksberg C 1870, Denmark.
Bioneer A/S, Kogle Alle 2, Hoersholm 2970, Denmark.
Danish Dementia Research Centre, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100 Copenhagen Ø, Denmark.


Induced pluripotent stem cells (iPSCs) were generated from skin fibroblasts isolated from a 58-year old male with a L150P mutation in the presenilin 1 (PSEN-1) gene, which is responsible for the majority of familial cases of Alzheimer's disease (AD). The iPSCs were established by co-electroporation with episomal plasmids containing hOCT4, hSOX2, hL-MYC, hKLF4, hNANOG, hLIN28, and short hairpin RNA against TP53. The iPSCs contained the specific heterozygous mutation c.449C>T, had normal karyotype, expressed the expected pluripotency genes and displayed in vitro differentiation potential to the three germ layers. The iPSCs may be useful for studying familial AD pathology in vitro.

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