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

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.2016.09.024

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

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

3 Citationer (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 pre-symptomatic carrier of the R406W mutation in the MAPT-gene.

Originalsprog	Engelsk
Tidsskrift	Stem Cell Research
Vol/bind	17
Udgave nummer	3
Sider (fra-til)	600-602
Antal sider	3
ISSN	1873-5061
DOI	https://doi.org/10.1016/j.scr.2016.09.024
Status	Udgivet - nov. 2016

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10.1016/j.scr.2016.09.024Licens: CC BY-NC-ND

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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 pre-symptomatic 28-year-old woman with an R406W mutation in the microtubule associated protein tau (MAPT) gene. Stem Cell Research, 17(3), 600-602. https://doi.org/10.1016/j.scr.2016.09.024

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

I: Stem Cell Research, Bind 17, Nr. 3, 11.2016, s. 600-602.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › 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 pre-symptomatic 28-year-old woman with an R406W mutation in the microtubule associated protein tau (MAPT) gene', Stem Cell Research, bind 17, nr. 3, s. 600-602. https://doi.org/10.1016/j.scr.2016.09.024

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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",

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 pre-symptomatic carrier of the R406W mutation in the MAPT-gene.",

author = "Natakarn Nimsanor 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",

year = "2016",

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doi = "10.1016/j.scr.2016.09.024",

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AU - Nimsanor, Natakarn

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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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 pre-symptomatic carrier of the R406W 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 pre-symptomatic carrier of the R406W mutation in the MAPT-gene.

U2 - 10.1016/j.scr.2016.09.024

DO - 10.1016/j.scr.2016.09.024

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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

Abstract

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