title: Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying a M146I mutation in PSEN1.
abstract: Skin fibroblasts were obtained from a 46-year-old symptomatic man carrying a M146I mutation in the presenilin 1 gene (PSEN1), responsible for causing Alzheimer's disease (AD). Induced pluripotent stem cells (iPSCs) were derived via transfection with episomal vectors carrying hOCT4, hSOX2, hKLF2, hL-MYC, hLIN28 and shTP53 genes. M146I-iPSCs were free of genomically integrated reprogramming genes, had the specific mutation but no additional genomic aberrancies, expressed the expected pluripotency markers and displayed in vitro differentiation potential to the three germ layers. The reported M146I-iPSCs line may be a useful resource for in vitro modeling of familial AD.
authors.affiliation: Faculty of Health and Medical Sciences, University of Copenhagen, Gronnegaardsvej 7, 1870 Frederiksberg C, Denmark.
authors.forename: Tong
authors.initials: T
authors.lastname: Li
authors.affiliation: Faculty of Health and Medical Sciences, University of Copenhagen, Gronnegaardsvej 7, 1870 Frederiksberg C, Denmark.
authors.forename: Carlota
authors.initials: C
authors.lastname: Pires
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: Danish Dementia Research Centre, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100 Copenhagen Ø, Denmark.
authors.forename: Gunhild
authors.initials: G
authors.lastname: Waldemar
authors.affiliation: Danish Dementia Research Centre, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100 Copenhagen Ø, Denmark.
authors.forename: Lena E
authors.initials: LE
authors.lastname: Hjermind
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: BioTalentum Ltd, Aulich L. u. 26, 2100 Godollo, Hungary.
authors.forename: Andras
authors.initials: A
authors.lastname: Dinnyes
authors.affiliation: Bioneer A/S, Kogle Alle 2, Hoersholm 2970, Denmark.
authors.forename: Bjørn
authors.initials: B
authors.lastname: Holst
authors.affiliation: Faculty of Health and Medical Sciences, University of Copenhagen, Gronnegaardsvej 7, 1870 Frederiksberg C, Denmark.
authors.forename: Poul
authors.initials: P
authors.lastname: Hyttel
authors.affiliation: Faculty of Health and Medical Sciences, University of Copenhagen, Gronnegaardsvej 7, 1870 Frederiksberg C, Denmark.
authors.forename: Kristine K
authors.initials: KK
authors.lastname: Freude
mesh_terms: D000544:Alzheimer Disease / Q000235:genetics / Q000473:pathology*; D002454:Cell Differentiation; D002478:Cells, Cultured; D065150:Cellular Reprogramming; D058732:Embryoid Bodies / Q000166:cytology; D005091:Exons; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology* / Q000378:metabolism; D059785:Karyotype; D008297:Male; D008856:Microscopy, Fluorescence; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D053764:Presenilin-1 / Q000235:genetics*; D060888:Real-Time Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism
chemical_list: D053764:Presenilin-1; D014157:Transcription Factors