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

Research output: Contribution to journalJournal articleResearchpeer-review

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

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 languageEnglish
JournalStem Cell Research
Issue number3
Pages (from-to)556-559
Number of pages4
Publication statusPublished - Nov 2016

ID: 172816727