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

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

doi:10.1016/j.scr.2016.09.020

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

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

Medical Genetics Program

7 Citations (Scopus)

Abstract

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.

Original language	English
Journal	Stem Cell Research
Volume	17
Issue number	3
Pages (from-to)	576-579
Number of pages	4
ISSN	1873-5061
DOIs	https://doi.org/10.1016/j.scr.2016.09.020
Publication status	Published - Nov 2016

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Nimsanor, N., Poulsen, U., Rasmussen, M. A., Clausen, C., Mau-Holzmann, U. A., Nielsen, J. E., Nielsen, T. T., Hyttel, P., Holst, B., & Schmid, B. (2016). 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, 17(3), 576-579. https://doi.org/10.1016/j.scr.2016.09.020

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. / Nimsanor, Natakarn; Poulsen, Ulla; Rasmussen, Mikkel A. et al.

In: Stem Cell Research, Vol. 17, No. 3, 11.2016, p. 576-579.

Research output: Contribution to journal › Journal article › Research › peer-review

Nimsanor, N, Poulsen, U, Rasmussen, MA, Clausen, C, Mau-Holzmann, UA, Nielsen, JE, Nielsen, TT, Hyttel, P, Holst, B & Schmid, B 2016, '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, pp. 576-579. https://doi.org/10.1016/j.scr.2016.09.020

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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",

abstract = "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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AU - Poulsen, Ulla

AU - Rasmussen, Mikkel A.

AU - Clausen, Christian

AU - Mau-Holzmann, Ulrike A

AU - Nielsen, Jørgen E.

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AU - Holst, Bjørn

AU - Schmid, Benjamin

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AB - 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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