Article open access publication

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

Stem Cell Research, Elsevier, ISSN 1873-5061

Volume 16, 2, 2016

DOI:10.1016/j.scr.2016.01.001, Dimensions: pub.1001994533, PMID: 27345998,



  1. (1) University of Copenhagen, grid.5254.6, KU
  2. (2) Danish Dementia Research Centre, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100 Copenhagen Ø, Denmark.
  3. (3) BioTalentum (Hungary), grid.424211.0
  4. (4) Bioneer (Denmark), grid.424169.c







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.


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