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Updated: Sep 19, 2026

Introducing Point Mutations into Human Pluripotent Stem Cells Using Seamless Genome Editing
Published on: May 10, 2020
CRISPR/Cpf1-mediated editing of DNM1L 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 dynamin-1-like protein (DNM1L), also termed DRP1, is essential for mitochondrial fission. Mutations in DNM1L are associated with neurological disorders and cardiac dysfunction. To decipher the role of DNM1L in human induced pluripotent stem cells (hiPSCs) and in their differentiated counterparts, we used CRISPR/Cpf1 and generated a human iPSC line with a mutation by targeting exon 18 of the DNM1L gene. The generated compound heterozygous (biallelic) DNM1L 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 meso-, endo-, and ectoderm.
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