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Updated: Jan 8, 2026

Introducing Point Mutations into Human Pluripotent Stem Cells Using Seamless Genome Editing
Published on: May 10, 2020
CRISPR/Cpf1-mediated editing of PINK1 in induced pluripotent stem cells
Roohallah Ghodrat1, Haribaskar Ramachandran2, Barbara Hildebrandt3
1Institute of Biochemistry and Molecular Biology I, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany.
Abstract:
The PTEN induced kinase 1 (PINK1) gene is crucial for mitophagy and mitochondrial quality control. Mutations in the PINK1 gene are associated with several neurological disorders. To decipher the role of PINK1-mediated mitophagy in human induced pluripotent stem cells (hiPSCs) and in their differentiated counterparts, we used CRISPR/Cpf1 and generated a human iPSC line with homozygous out-of-frame deletions by targeting exon 6 of the PINK1 gene. The generated homozygous PINK1 mutant cell line showed normal cell morphology, genomic stability, and expression of classical stem cell markers. Furthermore, the cells can be differentiated efficiently into the three germ layers.
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