Article open access publication

Generation of an isogenic, gene-corrected iPSC line from a symptomatic 59-year-old female patient with frontotemporal dementia caused by an R406W mutation in the microtubule associated protein tau (MAPT) gene

Stem Cell Research, Elsevier, ISSN 1873-5061

Volume 17, 3, 2016

DOI:10.1016/j.scr.2016.09.020, Dimensions: pub.1049457188, PMID: 27934586,

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  1. (1) Mahidol University, grid.10223.32
  2. (2) Bioneer (Denmark), grid.424169.c
  3. (3) University of Tübingen, grid.10392.39
  4. (4) Danish Dementia Research Centre, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100 Copenhagen Ø, Denmark
  5. (5) University of Copenhagen, grid.5254.6, KU

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Description

Frontotemporal dementia with parkinsonism linked to chromosome 17q21.2 (FTDP-17) is an autosomal-dominant neurodegenerative disorder. Mutations in the MAPT (microtubule-associated protein tau) gene can cause FTDP-17, but the underlying pathomechanisms of the disease are still unknown. Induced pluripotent stem cells (iPSCs) hold great promise to model FTDP-17 as such cells can be differentiated in vitro to the required cell type. Furthermore, gene-editing approaches allow generating isogenic gene-corrected controls that can be used as a very specific control. Here, we report the generation of genetically corrected iPSCs from a 59-year-old female FTD-17 patient carrying an R406W mutation in the MAPT-gene.

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2016: Realized

Research area: Medicine

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2016: Level 1

Research area: Medicine

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Times Cited: 7

Field Citation Ratio (FCR): 1.34

Relative Citation ratio (RCR): 0.24

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