title: Generation of a gene-corrected isogenic control hiPSC line derived from a familial Alzheimer's disease patient carrying a L150P mutation in presenilin 1.
abstract: Mutations in the presenilin 1 (PSEN1) gene lead to the most aggressive form of familial Alzheimer's disease (AD). Human induced pluripotent stem cells (hiPSCs) derived from AD patients and subsequently differentiated can be used for disease modeling. We have previously generated a hiPSC line from a familial AD patient carrying a L150P point mutation in PSEN1. Here we used CRISPR/Cas9 gene editing to correct for the single base pair mutation. This gene-corrected line, L150P-GC-hiPSC, serves as an isogenic control to the mutant line for future investigation of mechanisms and cellular phenotypes altered by this specific PSEN1 mutation.
authors: Faculty of Health and Medical Sciences, University of Copenhagen, Gronnegaardsvej 7, 1870 Frederiksberg C, Denmark.
authors: Anna
authors: A
authors: Poon
authors: Bioneer A/S, Kogle Alle 2, 2970 Hørsholm, Denmark.
authors: Benjamin
authors: B
authors: Schmid
authors: Faculty of Health and Medical Sciences, University of Copenhagen, Gronnegaardsvej 7, 1870 Frederiksberg C, Denmark.
authors: Carlota
authors: C
authors: Pires
authors: Danish Dementia Research Centre, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100 Copenhagen Ø, Denmark.
authors: Troels T
authors: TT
authors: Nielsen
authors: Danish Dementia Research Centre, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100 Copenhagen Ø, Denmark.
authors: Lena E
authors: LE
authors: Hjermind
authors: Danish Dementia Research Centre, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100 Copenhagen Ø, Denmark.
authors: Jørgen E
authors: JE
authors: Nielsen
authors: Bioneer A/S, Kogle Alle 2, 2970 Hørsholm, Denmark.
authors: Bjørn
authors: B
authors: Holst
authors: Faculty of Health and Medical Sciences, University of Copenhagen, Gronnegaardsvej 7, 1870 Frederiksberg C, Denmark.
authors: Poul
authors: P
authors: Hyttel
authors: Faculty of Health and Medical Sciences, University of Copenhagen, Gronnegaardsvej 7, 1870 Frederiksberg C, Denmark. Electronic address: kkf@sund.ku.dk.
authors: Kristine K
authors: KK
authors: Freude
mesh_terms: D000544:Alzheimer Disease / Q000235:genetics / Q000473:pathology*; D001483:Base Sequence; D064113:CRISPR-Cas Systems / Q000235:genetics; D002454:Cell Differentiation; D002460:Cell Line; D065150:Cellular Reprogramming; D005347:Fibroblasts / Q000166:cytology; D005838:Genotype; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology* / Q000378:metabolism; D059785:Karyotype; D008297:Male; D008856:Microscopy, Fluorescence; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D053764:Presenilin-1 / Q000235:genetics*; D017422:Sequence Analysis, DNA; D012867:Skin / Q000166:cytology; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism
chemical_list: D053764:Presenilin-1; D014157:Transcription Factors