title: Generation of a gene-corrected isogenic control cell line from an Alzheimer's disease patient iPSC line carrying a A79V mutation in PSEN1.
abstract: Alzheimer's disease (AD) is a progressive and irreversible neurodegenerative disease causing neural cell degeneration and brain atrophy and is considered to be the most common form of dementia. We previously generated an induced pluripotent stem cell (iPSC) line from an AD patient carrying an A79V mutation in PSEN1 as an in vitro disease model. Here we generated a gene-corrected version from this hiPSC line by substituting the point mutation with the wild-type sequence. The reported A79V-GC-iPSCs line is a very useful resource in combination with the A79V-iPSC line in order to study pathological cellular phenotypes related to this particular mutation.
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: Bioneer A/S, Hoersholm, Denmark.
authors.forename: Benjamin
authors.initials: B
authors.lastname: Schmid
authors.affiliation: Faculty of Health and Medical Sciences, University of Copenhagen, Gronnegaardsvej 7, 1870 Frederiksberg C, Denmark.
authors.forename: Carina
authors.initials: C
authors.lastname: Petræus
authors.affiliation: Faculty of Health and Medical Sciences, University of Copenhagen, Gronnegaardsvej 7, 1870 Frederiksberg C, Denmark.
authors.forename: Anna
authors.initials: A
authors.lastname: Poon
authors.affiliation: Faculty of Medical Technology, Mahidol University, Bangkok, Thailand.
authors.forename: Natakarn
authors.initials: N
authors.lastname: Nimsanor
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: 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 / Q000378:metabolism / Q000473:pathology*; D001483:Base Sequence; D064113:CRISPR-Cas Systems / Q000235:genetics; D002478:Cells, Cultured; D065150:Cellular Reprogramming; D004252:DNA Mutational Analysis; D005260:Female; D005347:Fibroblasts / Q000166:cytology; D005838:Genotype; D006579:Heterozygote; 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*; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism
chemical_list: C508853:PSEN1 protein, human; D053764:Presenilin-1; D014157:Transcription Factors