Generation of a gene-corrected isogenic control hiPSC line derived from a familial Alzheimer's disease patient carrying a L150P mutation in presenilin 1

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Anna Fong-Yee Poon, Benjamin Schmid, Carlota Pires, Troels Tolstrup Nielsen, Lena Elisabeth Hjermind, Jørgen Erik Nielsen, Bjørn Holst, Poul Hyttel, Kristine Freude

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. We have previously generated a hiPSC line from a familial AD patient carrying a L150P point mutation in PSEN1. Here we 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.

Original languageEnglish
JournalStem Cell Research
Issue number3
Pages (from-to)466-469
Number of pages4
Publication statusPublished - Nov 2016

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