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

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.

Automated summary

The study achieved genome-editing of an existing iPSC line carrying the APP London mutation into an iPSC line with the corrected pathogenic mutation. The resulting isogenic iPSC line retained pluripotent stem cell characteristics, normal karyotype, pluripotency marker expression, and the ability to differentiate into the three germ-layers in vitro.