Abstract
We report the genome-editing of an existing iPSC line carrying the London mutation in APP (V717I) into an iPSC line in which the pathogenic mutation was corrected. The resulting isogenic iPSC line maintained pluripotent stem cell morphology, a normal karyotype, expression of pluripotency markers and the ability to differentiate into the three germ-layers in vitro.
| Original language | English |
|---|---|
| Article number | 102373 |
| Journal | Stem Cell Research |
| Volume | 53 |
| DOIs | |
| State | Published - May 2021 |
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In: Stem Cell Research, Vol. 53, 102373, 05.2021.
Research output: Contribution to journal › Article › peer-review
TY - JOUR
T1 - Generation of a gene-corrected human isogenic iPSC line from an Alzheimer's disease iPSC line carrying the London mutation in APP (V717I)
AU - Dominantly Inherited Alzheimer Network (DIAN)
AU - Hernández, Damián
AU - Morgan Schlicht, Stephanie
AU - Daniszewski, Maciej
AU - Karch, Celeste M.
AU - Goate, Alison M.
AU - Pébay, Alice
N1 - Funding Information: We gratefully acknowledge the altruism of the participants and their families and the contributions of the DIAN research and support staff at each of the participating sites for their contributions to this study. The DIAN Expanded Registry welcomes contact from any families or treating clinicians interested in research about autosomal dominant familial Alzheimer’s disease. Data collection and sharing for this project were supported by The Dominantly Inherited Alzheimer’s Network (DIAN; grant UF1AG032438) funded by the National Institute on Aging (NIA), the German Center for Neurodegenerative Diseases (DZNE), and Raul Carrea Institute for Neurological Research (FLENI). Partial support was provided by the Research and Development Grants for Dementia from Japan Agency for Medical Research and Development (AMED) and by the Korea Health Technology R&D Project through the Korea Health Industry Development Institute (KHIDI). We also acknowledge the Biological Optical Microscopy Platform and the Melbourne Cytometry Platform (Melbourne Brain Centre Node) at the University of Melbourne for technical assistance . Funding Information: We gratefully acknowledge the altruism of the participants and their families and the contributions of the DIAN research and support staff at each of the participating sites for their contributions to this study. The DIAN Expanded Registry welcomes contact from any families or treating clinicians interested in research about autosomal dominant familial Alzheimer's disease. Data collection and sharing for this project were supported by The Dominantly Inherited Alzheimer's Network (DIAN; grant UF1AG032438) funded by the National Institute on Aging (NIA), the German Center for Neurodegenerative Diseases (DZNE), and Raul Carrea Institute for Neurological Research (FLENI). Partial support was provided by the Research and Development Grants for Dementia from Japan Agency for Medical Research and Development (AMED) and by the Korea Health Technology R&D Project through the Korea Health Industry Development Institute (KHIDI). We also acknowledge the Biological Optical Microscopy Platform and the Melbourne Cytometry Platform (Melbourne Brain Centre Node) at the University of Melbourne for technical assistance. This research was supported by grants from the Yulgilbar Alzheimer's Research Program, the DHB Foundation, Dementia Australia, the Brain Foundation, a National Health and Medical Research Council Senior Research Fellowship (AP, 1154389), and the University of Melbourne. Sarah Adams, MS; Ricardo Allegri, PhD; Aki Araki; Nicolas Barthelemy, PhD; Randall Bateman, MD; Jacob Bechara, BS; Tammie Benzinger, MD, PhD; Sarah Berman, MD, PhD; Courtney Bodge, PhD; Susan Brandon, BS; William (Bill) Brooks, MBBS, MPH; Jared Brosch, MD, PhD; Jill Buck, BSN; Virginia Buckles, PhD; Kathleen Carter, PhD; Lisa Cash, BFA; Charlie Chen, BA; Jasmeer Chhatwal, MD, PhD; Patricio Chrem Mendez, MD; Jasmin Chua, BS; Helena Chui, MD; Laura Courtney, BS; Carlos Cruchaga, PhD; Gregory S Day, MD; Chrismary DeLaCruz, BA; Darcy Denner, PhD; Anna Diffenbacher, MS; Aylin Dincer, BS; Tamara Donahue, MS; Jane Douglas, MPh; Duc Duong, BS; Noelia Egido, BS; Bianca Esposito, BS; Anne Fagan, PhD; Marty Farlow, MD; Becca Feldman, BS, BA; Colleen Fitzpatrick, MS; Shaney Flores, BS; Nick Fox, MD; Erin Franklin, MS; Nelly Joseph-Mathurin, PhD; Hisako Fujii, PhD; Samantha Gardener, PhD; Bernardino Ghetti, MD; Alison Goate, PhD; Sarah Goldberg, MS, LPC, NCC; Jill Goldman, MS, MPhil, CGC; Alyssa Gonzalez, BS; Brian Gordon, PhD; Susanne Gräber-Sultan, PhD; Neill Graff-Radford, MD; Morgan Graham, BA; Julia Gray, MS; Emily Gremminger, BA; Miguel Grilo, MD; Alex Groves; Christian Haass, PhD; Lisa Häsler, MSc; Jason Hassenstab, PhD; Cortaiga Hellm, BA; Elizabeth Herries, BA; Laura Hoechst-Swisher, MS; Anna Hofmann, MD; Anna Hofmann; David Holtzman, MD; Russ Hornbeck, MSCS, MPM; Yakushev Igor, MD; Ryoko Ihara, MD; Takeshi Ikeuchi, MD; Snezana Ikonomovic, MD; Kenji Ishii, MD; Clifford Jack, MD; Gina Jerome, MS; Erik Johnson, MD, PHD; Mathias Jucker, PhD; Celeste Karch, PhD; Stephan Käser, PHD; Kensaku Kasuga, MD; Sarah Keefe, BS; William (Klunk, MD, PHD; Robert Koeppe, PHD; Deb Koudelis, MHS, RN; Elke Kuder-Buletta, RN; Christoph Laske, PhD; Allan Levey, MD, PHD; Johannes Levin, MD; Yan Li, PHD; Oscar Lopez MD, MD; Jacob Marsh, BA; Ralph Martins, PhD; Neal Scott Mason, PhD; Colin Masters, MD; Kwasi Mawuenyega, PhD; Austin McCullough, PhD Candidate; Eric McDade, DO; Arlene Mejia, MD; Estrella Morenas-Rodriguez, MD, PhD; John Morris, MD; James Mountz, MD; Cath Mummery, PhD; N eelesh Nadkarni, MD, PhD; Akemi Nagamatsu, RN; Katie Neimeyer, MS; Yoshiki Niimi, MD; James Noble, MD; Joanne Norton, MSN, RN, PMHCNS-BC; Brigitte Nuscher; Ulricke Obermüller; Antoinette O'Connor, MRCPI; Riddhi Patira MD; Richard Perrin, MD, PhD; Lingyan Ping, PhD; Oliver Preische, MD; Alan Renton, PhD; John Ringman, MD; Stephen Salloway, MD; Peter Schofield, PhD; Michio Senda, MD, PhD; Nicholas T Seyfried, D. Phil; Kristine Shady, BA, BS; Hiroyuki Shimada, MD, PhD; Wendy Sigurdson, RN; Jennifer Smith, PhD; Lori Smith, PA-C; Beth Snitz, PhD; Hamid Sohrabi, PhD; Sochenda Stephens, BS, CCRP; Kevin Taddei, BS; Sarah Thompson, PA-C; Jonathan Vöglein, MD; Peter Wang, PhD; Qing Wang, PhD; Elise Weamer, MPH; Chengjie Xiong, PhD; Jinbin Xu, PhD; Xiong Xu, BS, MS. Funding Information: This research was supported by grants from the Yulgilbar Alzheimer’s Research Program, the DHB Foundation, Dementia Australia, the Brain Foundation, a National Health and Medical Research Council Senior Research Fellowship (AP, 1154389), and the University of Melbourne. Publisher Copyright: © 2021 The Author(s)
PY - 2021/5
Y1 - 2021/5
N2 - We report the genome-editing of an existing iPSC line carrying the London mutation in APP (V717I) into an iPSC line in which the pathogenic mutation was corrected. The resulting isogenic iPSC line maintained pluripotent stem cell morphology, a normal karyotype, expression of pluripotency markers and the ability to differentiate into the three germ-layers in vitro.
AB - We report the genome-editing of an existing iPSC line carrying the London mutation in APP (V717I) into an iPSC line in which the pathogenic mutation was corrected. The resulting isogenic iPSC line maintained pluripotent stem cell morphology, a normal karyotype, expression of pluripotency markers and the ability to differentiate into the three germ-layers in vitro.
UR - http://www.scopus.com/inward/record.url?scp=85105080543&partnerID=8YFLogxK
U2 - 10.1016/j.scr.2021.102373
DO - 10.1016/j.scr.2021.102373
M3 - Article
C2 - 34088002
AN - SCOPUS:85105080543
SN - 1873-5061
VL - 53
JO - Stem Cell Research
JF - Stem Cell Research
M1 - 102373
ER -