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Stem Cell Res. 2016 Mar;16(2):334-7. doi: 10.1016/j.scr.2016.01.001. Epub 2016 Jan 14.

Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying a M146I mutation in PSEN1.

Author information

1
Faculty of Health and Medical Sciences, University of Copenhagen, Gronnegaardsvej 7, 1870 Frederiksberg C, Denmark.
2
Danish Dementia Research Centre, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100 Copenhagen Ø, Denmark.
3
BioTalentum Ltd, Aulich L. u. 26, 2100 Godollo, Hungary.
4
Bioneer A/S, Kogle Alle 2, Hoersholm 2970, Denmark.

Abstract

Skin fibroblasts were obtained from a 46-year-old symptomatic man carrying a M146I mutation in the presenilin 1 gene (PSEN1), responsible for causing Alzheimer's disease (AD). Induced pluripotent stem cells (iPSCs) were derived via transfection with episomal vectors carrying hOCT4, hSOX2, hKLF2, hL-MYC, hLIN28 and shTP53 genes. M146I-iPSCs were free of genomically integrated reprogramming genes, had the specific mutation but no additional genomic aberrancies, expressed the expected pluripotency markers and displayed in vitro differentiation potential to the three germ layers. The reported M146I-iPSCs line may be a useful resource for in vitro modeling of familial AD.

PMID:
27345998
DOI:
10.1016/j.scr.2016.01.001
[Indexed for MEDLINE]
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