title: 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.
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 59-year-old female FTD-17 patient carrying an R406W mutation in the MAPT-gene.
authors.affiliation: Bioneer A/S, Kogle Alle 2, 2970 HØrsholm, Denmark; Department of Clinical Microscopy, Faculty of Medical Technology, Mahidol University, Bangkok 10700, Thailand.
authors.forename: Natakarn
authors.initials: N
authors.lastname: Nimsanor
authors.affiliation: Bioneer A/S, Kogle Alle 2, 2970 HØrsholm, Denmark.
authors.forename: Ulla
authors.initials: U
authors.lastname: Poulsen
authors.affiliation: Bioneer A/S, Kogle Alle 2, 2970 HØrsholm, Denmark.
authors.forename: Mikkel A
authors.initials: MA
authors.lastname: Rasmussen
authors.affiliation: Bioneer A/S, Kogle Alle 2, 2970 HØrsholm, Denmark.
authors.forename: Christian
authors.initials: C
authors.lastname: Clausen
authors.affiliation: Institute of Medical Genetics and Applied Genomics, Division of Cytogenetics, Calwerstrasse 7, University of Tuebingen, 72076, Germany.
authors.forename: Ulrike A
authors.initials: UA
authors.lastname: Mau-Holzmann
authors.affiliation: Danish Dementia Research Centre, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100 Copenhagen Ø, Denmark.
authors.forename: Jørgen E
authors.initials: JE
authors.lastname: Nielsen
authors.affiliation: Danish Dementia Research Centre, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100 Copenhagen Ø, Denmark.
authors.forename: Troels T
authors.initials: TT
authors.lastname: Nielsen
authors.affiliation: Department of Veterinary Clinical and Animal Sciences, Section for Anatomy & Biochemistry, University of Copenhagen, Grønnegårdsvej 7, 1870 Frb C, Denmark.
authors.forename: Poul
authors.initials: P
authors.lastname: Hyttel
authors.affiliation: Bioneer A/S, Kogle Alle 2, 2970 HØrsholm, Denmark.
authors.forename: Bjørn
authors.initials: B
authors.lastname: Holst
authors.affiliation: Bioneer A/S, Kogle Alle 2, 2970 HØrsholm, Denmark. Electronic address: bsc@bioneer.dk.
authors.forename: Benjamin
authors.initials: B
authors.lastname: Schmid
mesh_terms: D001483:Base Sequence; D064113:CRISPR-Cas Systems / Q000235:genetics; D002454:Cell Differentiation; D002460:Cell Line; D065150:Cellular Reprogramming; D005260:Female; D005347:Fibroblasts / Q000166:cytology; D057180:Frontotemporal Dementia / Q000235:genetics / Q000473:pathology*; D005838:Genotype; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology* / Q000378:metabolism; D059785:Karyotype; D008648:Mesoderm / Q000166:cytology / Q000378:metabolism; D008875:Middle Aged; D010957:Plasmids / Q000235:genetics / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide; D016415:Sequence Alignment; D012867:Skin / Q000166:cytology; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism; D016875:tau Proteins / Q000235:genetics*
chemical_list: C054369:MAPT protein, human; D014157:Transcription Factors; D016875:tau Proteins