Generation of a gene-corrected human isogenic iPSC line from an Alzheimer's disease iPSC line carrying the PSEN1 H163R mutation

Damián Hernández; Stephanie Morgan Schlicht; Jordan Elli Clarke; Maciej Daniszewski; Celeste M Karch; Dominantly Inherited Alzheimer Network (DIAN); Alison M Goate; Alice Pébay

doi:10.1016/j.scr.2024.103495

Generation of a gene-corrected human isogenic iPSC line from an Alzheimer's disease iPSC line carrying the PSEN1 H163R mutation

Stem Cell Res. 2024 Sep:79:103495. doi: 10.1016/j.scr.2024.103495. Epub 2024 Jul 29.

Authors

Damián Hernández¹, Stephanie Morgan Schlicht¹, Jordan Elli Clarke¹, Maciej Daniszewski¹, Celeste M Karch²; Dominantly Inherited Alzheimer Network (DIAN); Alison M Goate³, Alice Pébay⁴

Collaborators

Dominantly Inherited Alzheimer Network (DIAN):
Sarah Adams, Ricardo Allegri, Aki Araki, Nicolas Barthelemy, Randall Bateman, Jacob Bechara, Tammie Benzinger, Sarah Berman, Courtney Bodge, Sus Brandon, William Bill Brooks, Jared Brosch, Jill Buck, Virginia Buckles, Kathleen Carter, Lisa Cash, Charlie Chen, Jasmeer Chhatwal, Patricio Chrem Mendez, Jasmin Chua, Helena Chui, Laura Courtney, Carlos Cruchaga, Gregory S Day, Chrismary DeLaCruz, Darcy Denner, Anna Diffenbacher, Aylin Dincer, Tamara Donahue, Jane Douglas, Duc Duong, Noelia Egido, Bianca Esposito, Anne Fagan, Marty Farlow, Becca Feldman, Colleen Fitzpatrick, Shaney Flores, Nick Fox, Erin Franklin, Nelly Joseph-Mathurin, Hisako Fujii, Samantha Gardener, Bernardino Ghetti, Alison Goate, Sarah Goldberg, Jill Goldman, Alyssa Gonzalez, Brian Gordon, Susanne Gr Aber-Sultan, Neill Graff-Radford, Morgan Graham, Julia Gray, Emily Gremminger, Miguel Grilo, Alex Groves, Christian Haass, Lisa H Asler, Jason Hassenstab, Cortaiga Hellm, Elizabeth Herries, Laura Hoechst-Swisher, Anna Hofmann, Anna Hofmann, David Holtzman, Russ Hornbeck, Yakushev Igor, Ryoko Ihara, Takeshi Ikeuchi, Snezana Ikonomovic, Kenji Ishii, Clifford Jack, Gina Jerome, Erik Johnson, Mathias Jucker, Celeste Karch, Stephan K Aser, Kensaku Kasuga, Sarah Keefe, William Klunk, Robert Koeppe, Deb Koudelis, Elke Kuder-Buletta, Christoph Laske, Allan Levey, Johannes Levin, Yan Li, Oscar Lopez, Jacob Marsh, Ralph Martins, Neal Scott Mason, Colin Masters, Kwasi Mawuenyega, Austin McCullough, Eric McDade, Arlene Mejia, Estrella Morenas-Rodriguez, John Morris, James Mountz, Cath Mummery, Neelesh Nadkarni, Akemi Nagamatsu, Katie Neimeyer, Yoshiki Niimi, James Noble, Joanne Norton, Brigitte Nuscher, Ulricke Obermüller, Antoinette O'Connor, Riddhi Patira, Richard Perrin, Lingyan Ping, Oliver Preische, Alan Renton, John Ringman, Stephen Salloway, Peter Schofield, Michio Senda, Nicholas T Seyfried, Kristine Shady, Hiroyuki Shimada, Wendy Sigurdson, Jennifer Smith, Lori Smith, Beth Snitz, Hamid Sohrabi, Sochenda Stephens, Kevin Taddei, Sarah Thompson, Jonathan V Oglein, Peter Wang, Qing Wang, Elise Weamer, Chengjie Xiong, Jinbin Xu, Xiong Xu

Affiliations

¹ Department of Anatomy and Physiology, the University of Melbourne, Parkville, VIC 3010, Australia.
² Department of Psychiatry, Washington University School of Medicine, St. Louis, MO 63110, USA.
³ Department of Genetics and Genomic Sciences, Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, New York, NY 10029, USA.
⁴ Department of Anatomy and Physiology, the University of Melbourne, Parkville, VIC 3010, Australia; Department of Surgery, Royal Melbourne Hospital, the University of Melbourne, Parkville, VIC 3010, Australia. Electronic address: [email protected].

Abstract

We report the generation of a gene-edited human induced pluripotent stem cell (iPSC) line from an Alzheimer's disease patient-derived iPSC line harbouring the PSEN1 H163R mutation. This line demonstrates pluripotent stem cell morphology, expression of pluripotency markers, and maintains a normal karyotype.

MeSH terms

Alzheimer Disease* / genetics
Alzheimer Disease* / pathology
Cell Differentiation
Cell Line
Gene Editing
Humans
Induced Pluripotent Stem Cells* / metabolism
Mutation
Presenilin-1* / genetics

Substances

Presenilin-1
PSEN1 protein, human

Grants and funding

U19 AG032438/AG/NIA NIH HHS/United States