Article open access publication

Generation of a gene-corrected isogenic control hiPSC line derived from a familial Alzheimer's disease patient carrying a L150P mutation in presenilin 1

Stem Cell Research, Elsevier, ISSN 1873-5061

Volume 17, 3, 2016

DOI:10.1016/j.scr.2016.09.018, Dimensions: pub.1050309515, PMID: 27789395,

Affiliations

Organisations

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

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Denmark

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Europe

Description

Mutations in the presenilin 1 (PSEN1) gene lead to the most aggressive form of familial Alzheimer's disease (AD). Human induced pluripotent stem cells (hiPSCs) derived from AD patients and subsequently differentiated can be used for disease modeling. We have previously generated a hiPSC line from a familial AD patient carrying a L150P point mutation in PSEN1. Here we used CRISPR/Cas9 gene editing to correct for the single base pair mutation. This gene-corrected line, L150P-GC-hiPSC, serves as an isogenic control to the mutant line for future investigation of mechanisms and cellular phenotypes altered by this specific PSEN1 mutation.

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University of Copenhagen

Danish Open Access Indicator

2016: Realized

Research area: Medicine

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2016: Level 1

Research area: Medicine

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Times Cited: 16

Field Citation Ratio (FCR): 2.68

Relative Citation ratio (RCR): 0.5

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