Efficient introduction of specific homozygous and heterozygous mutations using CRISPR/Cas9

Dominik Paquet, Dylan Kwart, Antonia Chen, Andrew Sproul, Samson Jacob, Shaun Teo, Kimberly Moore Olsen, Andrew Gregg, Scott Noggle and Marc Tessier-Lavigne ()
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Dominik Paquet: Laboratory of Brain Development and Repair, The Rockefeller University
Dylan Kwart: Laboratory of Brain Development and Repair, The Rockefeller University
Antonia Chen: Laboratory of Brain Development and Repair, The Rockefeller University
Andrew Sproul: The New York Stem Cell Foundation Research Institute
Samson Jacob: The New York Stem Cell Foundation Research Institute
Shaun Teo: Laboratory of Brain Development and Repair, The Rockefeller University
Kimberly Moore Olsen: Laboratory of Brain Development and Repair, The Rockefeller University
Andrew Gregg: Laboratory of Brain Development and Repair, The Rockefeller University
Scott Noggle: The New York Stem Cell Foundation Research Institute
Marc Tessier-Lavigne: Laboratory of Brain Development and Repair, The Rockefeller University

Nature, 2016, vol. 533, issue 7601, 125-129

Abstract: A CRISPR/Cas9 genome editing framework has been developed that allows controlled introduction of mono- and bi-allelic sequence changes, and is used to generate induced human pluripotent stem cells with heterozygous and homozygous dominant mutations in amyloid precursor protein and presenilin 1 that have been associated with early onset Alzheimer’s disease.

Date: 2016
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DOI: 10.1038/nature17664

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