title: 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.
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 57-year-old female FTD-17 patient carrying an P301L mutation in the MAPT-gene.
authors: Bioneer A/S, Kogle Alle 2, 2970 HØrsholm, Denmark; Department of Clinical Microscopy, Faculty of Medical Technology, Mahidol University, Bangkok 10700, Thailand.
authors: Natakarn
authors: N
authors: Nimsanor
authors: Bioneer A/S, Kogle Alle 2, 2970 HØrsholm, Denmark; Stem Cell Research Group, Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom, 73170, Thailand.
authors: Narisorn
authors: N
authors: Kitiyanant
authors: Bioneer A/S, Kogle Alle 2, 2970 HØrsholm, Denmark.
authors: Ulla
authors: U
authors: Poulsen
authors: Bioneer A/S, Kogle Alle 2, 2970 HØrsholm, Denmark.
authors: Mikkel A
authors: MA
authors: Rasmussen
authors: Bioneer A/S, Kogle Alle 2, 2970 HØrsholm, Denmark.
authors: Christian
authors: C
authors: Clausen
authors: Institute of Medical Genetics and Applied Genomics, Division of Cytogenetics, Calwerstrasse 7, University of Tuebingen, 72076, Germany.
authors: Ulrike A
authors: UA
authors: Mau-Holzmann
authors: Danish Dementia Research Centre, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100 Copenhagen Ø, Denmark.
authors: Jørgen E
authors: JE
authors: Nielsen
authors: Danish Dementia Research Centre, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100 Copenhagen Ø, Denmark.
authors: Troels T
authors: TT
authors: Nielsen
authors: Department of Veterinary Clinical and Animal Sciences, Section for Anatomy & Biochemistry, University of Copenhagen, Grønnegårdsvej 7, 1870 Frb C, Denmark.
authors: Poul
authors: P
authors: Hyttel
authors: Bioneer A/S, Kogle Alle 2, 2970 HØrsholm, Denmark.
authors: Bjørn
authors: B
authors: Holst
authors: Bioneer A/S, Kogle Alle 2, 2970 HØrsholm, Denmark. Electronic address: bsc@bioneer.dk.
authors: Benjamin
authors: B
authors: Schmid
mesh_terms: D001483:Base Sequence; D064113:CRISPR-Cas Systems / Q000235:genetics; D002454:Cell Differentiation; D002460:Cell Line; D002886:Chromosomes, Human, Pair 17; D003704:Dementia / Q000235:genetics / Q000473:pathology*; D005260:Female; D005347:Fibroblasts / Q000166:cytology; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology* / Q000378:metabolism; D059785:Karyotype; D008648:Mesoderm / Q000166:cytology / Q000378:metabolism; D008856:Microscopy, Fluorescence; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D016415:Sequence Alignment; D012867:Skin / Q000166:cytology; D016875:tau Proteins / Q000235:genetics*
chemical_list: C054369:MAPT protein, human; D016875:tau Proteins