Establishment of iPS cell line (KLRMMEi002-A) by reprogramming peripheral blood mononuclear cells from a patient with USH2A-associated Usher syndrome

USH type 2 (USH2) is an autosomal recessive disorder that is characterized by inherited retinopathies and sensorineural hearing loss. USH type 2 (USH2) is frequently caused by USH2A mutations, which account for 74-90% of USH2 cases. We used peripheral blood mononuclear cells (PBMCs) from a USH2 patient with a USH2A gene mutation (c.8559-2A > G) to create an induced pluripotent stem (iPS) cell line. The patient-specific iPS cell line with the specific point mutation exhibited typical iPS cell characteristics, and it can be used as a model to investigate the pathogenic mechanisms underlying USH2A-associated retinal degeneration and sensorineural hearing loss.

Automated summary

USH type 2 (USH2) is an autosomal recessive disorder characterized by inherited retinopathies and sensorineural hearing loss. Mutations in the USH2A gene account for a large percentage of USH2 cases. A patient-specific induced pluripotent stem (iPS) cell line with a specific USH2A gene mutation was successfully created, which can be used as a model for studying the pathogenic mechanisms of USH2A-associated disorders.