Generation of an isogenic, gene-corrected iPSC line from a symptomatic 57-year-old female patient with frontotemporal dementia caused by a P301L mutation in the microtubule associated protein tau (MAPT) gene

Natakarn Nimsanor; Narisorn Kitiyanant; 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.2016.09.021

Generation of an isogenic, gene-corrected iPSC line from a symptomatic 57-year-old female patient with frontotemporal dementia caused by a P301L mutation in the microtubule associated protein tau (MAPT) gene

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

5 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 57-year-old female FTD-17 patient carrying an P301L mutation in the MAPT-gene.

Original language	English
Journal	Stem Cell Research
Volume	17
Issue number	3
Pages (from-to)	556-559
Number of pages	4
ISSN	1873-5061
DOIs	https://doi.org/10.1016/j.scr.2016.09.021
Publication status	Published - Nov 2016

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Nimsanor, N., Kitiyanant, 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 57-year-old female patient with frontotemporal dementia caused by a P301L mutation in the microtubule associated protein tau (MAPT) gene. Stem Cell Research, 17(3), 556-559. https://doi.org/10.1016/j.scr.2016.09.021

Generation of an isogenic, gene-corrected iPSC line from a symptomatic 57-year-old female patient with frontotemporal dementia caused by a P301L mutation in the microtubule associated protein tau (MAPT) gene. / Nimsanor, Natakarn; Kitiyanant, Narisorn; Poulsen, Ulla et al.

In: Stem Cell Research, Vol. 17, No. 3, 11.2016, p. 556-559.

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

Nimsanor, N, Kitiyanant, 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 57-year-old female patient with frontotemporal dementia caused by a P301L mutation in the microtubule associated protein tau (MAPT) gene', Stem Cell Research, vol. 17, no. 3, pp. 556-559. https://doi.org/10.1016/j.scr.2016.09.021

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title = "Generation of an isogenic, gene-corrected iPSC line from a symptomatic 57-year-old female patient with frontotemporal dementia caused by a P301L 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 57-year-old female FTD-17 patient carrying an P301L mutation in the MAPT-gene.",

author = "Natakarn Nimsanor and Narisorn Kitiyanant and Ulla Poulsen and Rasmussen, {Mikkel A.} and Christian Clausen and Mau-Holzmann, {Ulrike A} and Nielsen, {J{\o}rgen E} and Nielsen, {Troels T} and Poul Hyttel and Bj{\o}rn Holst and Benjamin Schmid",

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AU - Nimsanor, Natakarn

AU - Kitiyanant, Narisorn

AU - Poulsen, Ulla

AU - Rasmussen, Mikkel A.

AU - Clausen, Christian

AU - Mau-Holzmann, Ulrike A

AU - Nielsen, Jørgen E

AU - Nielsen, Troels T

AU - Hyttel, Poul

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 57-year-old female FTD-17 patient carrying an P301L mutation in the MAPT-gene.

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DO - 10.1016/j.scr.2016.09.021

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