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

Author

Listed:
  • 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
    † Present address: Department of Pathology and Cell Biology and the Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, Columbia University Medical Center, 630 West 168th Street, New York, New York 10032, USA.)

  • 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
    Weill Cornell Graduate School of Medical Sciences, The Rockefeller University and Sloan-Kettering Institute Tri-institutional MD-PhD Program)

  • Scott Noggle

    (The New York Stem Cell Foundation Research Institute)

  • Marc Tessier-Lavigne

    (Laboratory of Brain Development and Repair, The Rockefeller University)

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.

Suggested Citation

  • Dominik Paquet & Dylan Kwart & Antonia Chen & Andrew Sproul & Samson Jacob & Shaun Teo & Kimberly Moore Olsen & Andrew Gregg & Scott Noggle & Marc Tessier-Lavigne, 2016. "Efficient introduction of specific homozygous and heterozygous mutations using CRISPR/Cas9," Nature, Nature, vol. 533(7601), pages 125-129, May.
    • Handle: RePEc:nat:nature:v:533:y:2016:i:7601:d:10.1038_nature17664
    DOI: 10.1038/nature17664
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