Generation of two isogenic iPSC lines with either a heterozygous or a homozygous E280A mutation in the PSEN1 gene

Abstract

Alzheimer's disease (AD) is the most common form of dementia. Mutations in the gene PSEN1 encoding Presenilin1 are known to cause familial forms of AD with early age of onset. The most common mutation in the PSEN1 gene is the E280A mutation. iPSCs are an optimal choice for modeling AD, as they can be differentiated in vitro into neural cells. Here, we report the generation of two isogenic iPSC lines with either a homozygous or a heterozygous E280A mutation in the PSEN1 gene. The mutation was introduced into an iPSC line from a healthy individual using the CRISPR-Cas9 technology.Resource tableUnlabelled TableUnique stem cell lines identifier 1. BIONi010-C + homozygous E280A = BIONi010-C-29 2. BIONi010-C + heterozygous E280A = BIONi010-C-30Alternative names of stem cell lines 1. BIONi010-C E280 +/+ (homozygous line) 2. BIONi010-C E280 +/− (heterozygous line)InstitutionBioneer A/S Hørsholm Denmark and University of Copenhagen (UCPH) Copenhagen DenmarkContact information of distributorContact at Bioneer: Benjamin Schmid,[email protected]– Contact at UCPH: Kristine Freude,[email protected] of cell linesiPSCsOriginHumanCell SourceFibroblastsClonalityClonalMethod of reprogrammingEpisomal plasmids (Okita et al., 2011)Multiline rationaleMutated isogenic clonesGene modificationYESType of modificationInduced point mutationAssociated diseaseAlzheimer's disease (AD)Gene/locusPSEN1/Chr14:73664808Method of modificationCRISPR-Cas9Name of transgene or resistanceN/AInducible/constitutive systemN/ADate archived/stock dateSeptember 2017Cell line repository/bank 1. BIONi010-C-29:https://hpscreg.eu/cell-line/BIONi010-C-29 2. BIONi010-C-30:https://hpscreg.eu/cell-line/BIONi010-C-30Ethical approvalThe study was approved by the Ethics Committee of the Capital Region of Denmark (H-4-2011-157), and written informed consent was obtained from the participant before enrolment