Publication:
Generation of an isogenic, gene-corrected iPSC line from a pre-symptomatic 28-year-old woman with 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.2016.09.024

Other identifier(s)

2-s2.0-85028054396

Rights

Mahidol University

Rights Holder(s)

SCOPUS

Bibliographic Citation

Stem Cell Research. Vol.17, No.3 (2016), 600-602

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 pre-symptomatic 28-year-old woman with an R406W mutation in the microtubule associated protein tau (MAPT) gene. Stem Cell Research. Vol.17, No.3 (2016), 600-602. doi:10.1016/j.scr.2016.09.024 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/42871

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Title

Generation of an isogenic, gene-corrected iPSC line from a pre-symptomatic 28-year-old woman with 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 The Authors 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 pre-symptomatic carrier of the R406W mutation in the MAPT-gene.

Keyword(s)

Biochemistry, Genetics and Molecular Biology

Availability

URI

https://repository.li.mahidol.ac.th/handle/20.500.14594/42871

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Scopus 2016-2017