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
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. Copyright © 2016 The Authors. Published by Elsevier B.V. All rights reserved.
|Authors||Nimsanor N, Poulsen U, Rasmussen MA, Clausen C, Mau-Holzmann UA, Nielsen JE, Nielsen TT, Hyttel P, Holst B, Schmid B|
|Journal||Stem cell research|
|Publication Date||2016 Nov;17(3):600-602|