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. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Liang L, Xue Y, Su C, Wang J, Chen L, Su T, Ke J, Xie L, Cui Z, Yu Q, Chan HF, Zhong J, Guo Y, Chen J
Journal Stem cell research
Publication Date 2022 Apr;60:102699
PubMed 35152177
DOI 10.1016/j.scr.2022.102699

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