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

Medical Biotechnology Sciences Academic Group

Bioneer A/S
Mahidol University
University of Tübingen
Copenhagen University

Research output: Contribution to journal › Article › peer-review

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

Original language	English
Pages (from-to)	556-559
Number of pages	4
Journal	Stem Cell Research
Volume	17
Issue number	3
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

@article{6f80ae7b3d484f748d4dc755cc1dc178,

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",

note = "Publisher Copyright: {\textcopyright} 2016 Michael Boutros, German Cancer Research Center, Heidelberg, Germany",

year = "2016",

month = nov,

doi = "10.1016/j.scr.2016.09.021",

language = "English",

volume = "17",

pages = "556--559",

journal = "Stem Cell Research",

issn = "1873-5061",

publisher = "Elsevier B.V.",

number = "3",

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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

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 › Article › peer-review

TY - JOUR

T1 - 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

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

PY - 2016/11

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N2 - 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.

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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AN - SCOPUS:85028060215

SN - 1873-5061

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IS - 3

ER -

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

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