title: Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying an A79V mutation in PSEN1.
abstract: Skin fibroblasts were obtained from a 48-year-old presymptomatic woman carrying a A79V mutation in the presenilin 1 gene (PSEN1), causing Alzheimer's disease (AD). Induced pluripotent stem cell (iPSCs) were derived via transfection with episomal vectors carrying hOCT4, hSOX2, hKLF2, hL-MYC, hLIN28 and shTP53 genes. A79V-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 A79V-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: 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. Electronic address: kkf@sund.ku.dk.
authors.forename: Kristine K
authors.initials: KK
authors.lastname: Freude
mesh_terms: D000544:Alzheimer Disease / Q000235:genetics / Q000473:pathology*; D001483:Base Sequence; D002454:Cell Differentiation; D002478:Cells, Cultured; D065150:Cellular Reprogramming; D005091:Exons; D005260:Female; D005347:Fibroblasts / Q000166:cytology; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology* / Q000378:metabolism; D059785:Karyotype; D008856:Microscopy, Fluorescence; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D053764:Presenilin-1 / Q000235:genetics; D060888:Real-Time Polymerase Chain Reaction; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism
chemical_list: C508853:PSEN1 protein, human; D053764:Presenilin-1; D014157:Transcription Factors