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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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; Rasmussen, Mikkel A.; Clausen, Christian; Mau-Holzmann, Ulrike A; Nielsen, Jørgen E; Nielsen, Troels T; Hyttel, Poul; Holst, Bjørn; Schmid, Benjamin.
I: Stem Cell Research, Bind 17, Nr. 3, 11.2016, s. 556-559.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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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
N1 - Copyright © 2016. Published by Elsevier B.V.
PY - 2016/11
Y1 - 2016/11
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.
U2 - 10.1016/j.scr.2016.09.021
DO - 10.1016/j.scr.2016.09.021
M3 - Journal article
C2 - 27789409
VL - 17
SP - 556
EP - 559
JO - Stem Cell Research
JF - Stem Cell Research
SN - 1873-5061
IS - 3
ER -
ID: 172816727