title: Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying a L150P mutation in PSEN-1.
abstract: Induced pluripotent stem cells (iPSCs) were generated from skin fibroblasts isolated from a 58-year old male with a L150P mutation in the presenilin 1 (PSEN-1) gene, which is responsible for the majority of familial cases of Alzheimer's disease (AD). The iPSCs were established by co-electroporation with episomal plasmids containing hOCT4, hSOX2, hL-MYC, hKLF4, hNANOG, hLIN28, and short hairpin RNA against TP53. The iPSCs contained the specific heterozygous mutation c.449C>T, had normal karyotype, expressed the expected pluripotency genes and displayed in vitro differentiation potential to the three germ layers. The iPSCs may be useful for studying familial AD pathology in vitro.
authors.affiliation: Stem Cell Research Group, Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom 73170, Thailand.
authors.forename: Alisa
authors.initials: A
authors.lastname: Tubsuwan
authors.affiliation: Department of Veterinary Clinical and Animal Sciences, Section for Anatomy & Biochemistry, University of Copenhagen, Groennegaardsvej 7, Frederiksberg C 1870, Denmark.
authors.forename: Carlota
authors.initials: C
authors.lastname: Pires
authors.affiliation: Bioneer A/S, Kogle Alle 2, Hoersholm 2970, Denmark.
authors.forename: Mikkel A
authors.initials: MA
authors.lastname: Rasmussen
authors.affiliation: Bioneer A/S, Kogle Alle 2, Hoersholm 2970, Denmark.
authors.forename: Benjamin
authors.initials: B
authors.lastname: Schmid
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: Lena E
authors.initials: LE
authors.lastname: Hjermind
authors.affiliation: Department of Veterinary Clinical and Animal Sciences, Section for Anatomy & Biochemistry, University of Copenhagen, Groennegaardsvej 7, Frederiksberg C 1870, Denmark.
authors.forename: Vanessa
authors.initials: V
authors.lastname: Hall
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: Department of Veterinary Clinical and Animal Sciences, Section for Anatomy & Biochemistry, University of Copenhagen, Groennegaardsvej 7, Frederiksberg C 1870, Denmark.
authors.forename: Poul
authors.initials: P
authors.lastname: Hyttel
authors.affiliation: Bioneer A/S, Kogle Alle 2, Hoersholm 2970, Denmark.
authors.forename: Christian
authors.initials: C
authors.lastname: Clausen
authors.affiliation: Stem Cell Research Group, Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom 73170, Thailand.
authors.forename: Narisorn
authors.initials: N
authors.lastname: Kitiyanant
authors.affiliation: Department of Veterinary Clinical and Animal Sciences, Section for Anatomy & Biochemistry, University of Copenhagen, Groennegaardsvej 7, Frederiksberg C 1870, Denmark.
authors.forename: Kristine K
authors.initials: KK
authors.lastname: Freude
authors.affiliation: Bioneer A/S, Kogle Alle 2, Hoersholm 2970, Denmark.
authors.forename: Bjørn
authors.initials: B
authors.lastname: Holst
mesh_terms: D000544:Alzheimer Disease / Q000378:metabolism / Q000473:pathology*; D001483:Base Sequence; D002454:Cell Differentiation; D002460:Cell Line; D065150:Cellular Reprogramming; D004252:DNA Mutational Analysis; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology* / Q000378:metabolism; D059785:Karyotype; D008297:Male; D008856:Microscopy, Fluorescence; D008875:Middle Aged; D010957:Plasmids / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide; D053764:Presenilin-1 / Q000235:genetics*; D034741:RNA, Small Interfering / Q000378:metabolism; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism; D014162:Transfection; D016159:Tumor Suppressor Protein p53 / Q000037:antagonists & inhibitors / Q000235:genetics / Q000378:metabolism
chemical_list: D053764:Presenilin-1; D034741:RNA, Small Interfering; C495901:TP53 protein, human; D014157:Transcription Factors; D016159:Tumor Suppressor Protein p53