title: Induced pluripotent stem cells (iPSCs) derived from a patient with frontotemporal dementia caused by a P301L mutation in microtubule-associated protein tau (MAPT).
abstract: Skin fibroblasts were obtained from a 57-year-old woman diagnosed with frontotemporal dementia. The disease is caused by a P301L mutation in microtubule-associated protein tau (MAPT). Induced pluripotent stem cells (iPSCs) were established by electroporation with episomal plasmids containing hOCT4, hSOX2, hKLF2, hL-MYC, hLIN-28 and shP53. iPSCs were free of genomically integrated reprogramming genes, contained the expected c.902C>T substitution in exon 10 of the MAPT gene, expressed the expected pluripotency markers, displayed in vitro differentiation potential to the three germ layers and had normal karyotype. The iPSC line may be useful for studying hereditary frontotemporal dementia and TAU pathology in vitro.
authors.affiliation: Bioneer A/S, Kogle Alle 2, 2970 Hoersholm, Denmark. Electronic address: mar@bioneer.dk.
authors.forename: Mikkel A
authors.initials: MA
authors.lastname: Rasmussen
authors.affiliation: Danish Dementia Research Centre, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100 Copenhagen, Denmark.
authors.forename: Lena E
authors.initials: LE
authors.lastname: Hjermind
authors.affiliation: Institute of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3B, 2200 N, Denmark.
authors.forename: Lis F
authors.initials: LF
authors.lastname: Hasholt
authors.affiliation: Danish Dementia Research Centre, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100 Copenhagen, Denmark.
authors.forename: Gunhild
authors.initials: G
authors.lastname: Waldemar
authors.affiliation: Danish Dementia Research Centre, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100 Copenhagen, Denmark.
authors.forename: Jørgen E
authors.initials: JE
authors.lastname: Nielsen
authors.affiliation: Bioneer A/S, Kogle Alle 2, 2970 Hoersholm, Denmark.
authors.forename: Christian
authors.initials: C
authors.lastname: Clausen
authors.affiliation: Department of Veterinary Clinical and Animal Sciences, Section for Anatomy & Biochemistry, University of Copenhagen, Groennegårdsvej 7, 1870 Frb C, Denmark.
authors.forename: Poul
authors.initials: P
authors.lastname: Hyttel
authors.affiliation: Bioneer A/S, Kogle Alle 2, 2970 Hoersholm, Denmark.
authors.forename: Bjørn
authors.initials: B
authors.lastname: Holst
mesh_terms: D001483:Base Sequence; D018929:Cell Culture Techniques / Q000379:methods*; D005260:Female; D057180:Frontotemporal Dementia / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D007150:Immunohistochemistry; D057026:Induced Pluripotent Stem Cells / Q000166:cytology*; D007621:Karyotyping; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D015203:Reproducibility of Results; D016875:tau Proteins / Q000235:genetics*
chemical_list: D016875:tau Proteins