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