Poon A, Schmid B, Pires C, Nielsen TT, Hjermind LE, Nielsen JE, Holst B, Hyttel P, and Fredue KK (2016) Generation of a gene-corrected isogenic control hiPSC line derived from a familial Alzheimer’s disease patient carrying a L150P mutation in presenilin 1. Stem Cell Research 17:466-469. http://dx.doi.org/10.1016/j.scr.2016.09.018.
Mutations in the presenilin 1 (PSEN1) gene lead to the most aggressive form of familial Alzheimer’s disease (AD). Human induced pluripotent stem cells (hiPSCs) derived from AD patients and subsequently differentiated can be used for disease modeling. The research team previously generated a hiPSC line from a familial AD patient carrying a L150P point mutation in PSEN1. In this study, the team used CRISPR/Cas9 gene editing to correct for the single base pair mutation. This gene-corrected line, L150P-GC-hiPSC, serves as an isogenic control to the mutant line for future investigation of mechanisms and cellular phenotypes altered by this specific PSEN1 mutation.
prepGEM was used to extract DNA for genotyping.
Download the pdf here.