Journal article

Generation of a gene-corrected human isogenic iPSC line from an Alzheimer's disease iPSC line carrying the London mutation in APP (V717I)

Damian Hernandez, Stephanie Morgan Schlicht, Maciej Daniszewski, Celeste M Karch, Alison M Goate, Alice Pebay

STEM CELL RESEARCH | ELSEVIER | Published : 2021

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.

Grants

Awarded by National Institute on Aging (NIA)


Awarded by German Center for Neurodegenerative Diseases (DZNE)


Awarded by Raul Carrea Institute for Neurological Research (FLENI)


Awarded by National Health and Medical Research Council


Funding Acknowledgements

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 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.