CRISPR/Cas9-mediated generation of a REPS2 knockout human embryonic stem cell line.

Ral-binding protein 1-associated Eps domain-containing 2 (REPS2), an Xchromosome-linked gene, is broadly expressed in brain, adrenal gland, and other tissues. REPS2 encodes a protein that forms part of a complex involved in the regulation of growth factor receptor endocytosis, and has been associated with a variety of diseases. We generated a REPS2 knockout human embryonic stem cell line using CRISPR/Cas9 genome editing system, which remained typical stem cell morphology, a normal karyotype, and pluripotency, and demonstrated the capacity to differentiate into all three germ layers. The REPS2 knockout hESC line provides a valuable tool for modeling REPS2-associated pathological process.