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

Issued Date

2016-11-01

Resource Type

Article

ISSN

18767753
18735061

DOI

10.1016/j.scr.2016.09.020

Other identifier(s)

2-s2.0-85028081998

Rights

Mahidol University

Rights Holder(s)

SCOPUS

Bibliographic Citation

Stem Cell Research. Vol.17, No.3 (2016), 576-579

Suggested Citation

Natakarn Nimsanor, Ulla Poulsen, Mikkel A. Rasmussen, Christian Clausen, Ulrike A. Mau-Holzmann, Jørgen E. Nielsen, Troels T. Nielsen, Poul Hyttel, Bjørn Holst, Benjamin Schmid 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. Vol.17, No.3 (2016), 576-579. doi:10.1016/j.scr.2016.09.020 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/42875

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Title

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

Author(s)

Natakarn Nimsanor
 Ulla Poulsen
 Mikkel A. Rasmussen
 Christian Clausen
 Ulrike A. Mau-Holzmann
 Jørgen E. Nielsen
 Troels T. Nielsen
 Poul Hyttel
 Bjørn Holst
 Benjamin Schmid

Other Contributor(s)

Bioneer AS
 Københavns Universitet
 Universität Tübingen
 Mahidol University

Abstract

© 2016 Michael Boutros, German Cancer Research Center, Heidelberg, Germany 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.

Keyword(s)

Biochemistry, Genetics and Molecular Biology

Availability

URI

https://repository.li.mahidol.ac.th/handle/20.500.14594/42875

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Scopus 2016-2017