Journal
STEM CELL RESEARCH
Volume 56, Issue -, Pages -Publisher
ELSEVIER
DOI: 10.1016/j.scr.2021.102552
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Funding
- BRC, Qatar University
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This study generated hiPSC from skin fibroblasts of an AD patient carrying a N141I missense mutation in PSEN2 and corrected the mutation using genome editing technology. The N141I missense mutation was associated with increased basal cell death and apoptosis.
Alzheimer's disease (AD) is the major cause of dementia worldwide. Early-onset familial AD accounts for about 0.5% of all AD and is caused by single major gene mutations and autosomal dominant inheritance. An N141I missense mutation is associated with a significant increase in basal cell death and apoptosis. In this work we generated hiPSC from skin fibroblasts obtained from an AD patient carrying a N141I missense mutation in PSEN2. The generated iPSC colonies grew and were characterized by pluripotency marker staining; the N141I missense mutation was corrected using genome editing technology.
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