Article open access publication

Derivation of induced pluripotent stem cells from a familial Alzheimer's disease patient carrying the L282F mutation in presenilin 1

Stem Cell Research, Elsevier, ISSN 1873-5061

Volume 17, 3, 2016

DOI:10.1016/j.scr.2016.09.016, Dimensions: pub.1052951822, PMID: 27789396,

Affiliations

Organisations

  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) Bioneer (Denmark), grid.424169.c
  4. (4) BioTalentum (Hungary), grid.424211.0

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Denmark

Hungary

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Europe

Description

Mutations in presenilin 1 (PSEN1) lead to the most aggressive form of familial Alzheimer's disease (AD). Human induced pluripotent stem cells (hiPSCs) derived from AD patients can be differentiated and used for disease modeling. Here, we derived hiPSC from skin fibroblasts obtained from an AD patient carrying a L282F mutation in PSEN1. We transfected skin fibroblasts with episomal iPSC reprogramming vectors targeting human OCT4, SOX2, L-MYC, KLF4, NANOG, LIN28, and short hairpin RNA against TP53. Our hiPSC line, L282F-hiPSC, displayed typical stem cell characteristics with consistent expression of pluripotency genes and the ability to differentiation into the three germ layers.

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University of Copenhagen

Danish Open Access Indicator

2016: Realized

Research area: Medicine

Danish Bibliometrics Indicator

2016: Level 1

Research area: Medicine

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Times Cited: 5

Field Citation Ratio (FCR): 0.82

Relative Citation ratio (RCR): 0.33

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