Generation of an isogenic, gene-corrected iPSC line from a symptomatic 59-year-old female patient with frontotemporal dementia caused by an R406W mutation in the microtubule associated protein tau (MAPT) gene

Natakarn NimsanorUlla PoulsenMikkel A. RasmussenChristian ClausenUlrike A. Mau-HolzmannJørgen E. NielsenTroels T. NielsenPoul HyttelBjørn HolstBenjamin SchmidBioneer ASKøbenhavns UniversitetUniversität TübingenMahidol University2018-12-112019-03-142018-12-112019-03-142016-11-01Stem Cell Research. Vol.17, No.3 (2016), 576-57918767753187350612-s2.0-85028081998https://repository.li.mahidol.ac.th/handle/20.500.14594/42875© 2016 Michael Boutros, German Cancer Research Center, Heidelberg, Germany 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 59-year-old female FTD-17 patient carrying an R406W mutation in the MAPT-gene.Mahidol UniversityBiochemistry, Genetics and Molecular BiologyGeneration of an isogenic, gene-corrected iPSC line from a symptomatic 59-year-old female patient with frontotemporal dementia caused by an R406W mutation in the microtubule associated protein tau (MAPT) geneArticleSCOPUS10.1016/j.scr.2016.09.020