Generation of a gene-corrected isogenic control cell line from an Alzheimer's disease patient iPSC line carrying a A79V mutation in PSEN1

Carlota PiresBenjamin SchmidCarina PetræusAnna PoonNatakarn NimsanorTroels T. NielsenGunhild WaldemarLena E. HjermindJørgen E. NielsenPoul HyttelKristine K. FreudeKøbenhavns UniversitetBioneer ASMahidol University2018-12-112019-03-142018-12-112019-03-142016-09-01Stem Cell Research. Vol.17, No.2 (2016), 285-28818767753187350612-s2.0-85028072813https://repository.li.mahidol.ac.th/handle/123456789/42941© 2016 Helmholtz Zentrum München 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.Mahidol UniversityBiochemistry, Genetics and Molecular BiologyGeneration of a gene-corrected isogenic control cell line from an Alzheimer's disease patient iPSC line carrying a A79V mutation in PSEN1ArticleSCOPUS10.1016/j.scr.2016.08.002