Establishment of iPS cell line (KLRMMEi003-A) from a patient with Usher syndrome due to USH2A mutation
Summary
We generated an induced pluripotent stem (iPS) cell line by reprogramming peripheral blood mononuclear cells of a patient with Usher syndrome type II carrying USH2A gene mutation (c.8559-2A > G). The iPS cell line with confirmed patient-specific point mutation exhibited typical iPS cell characteristics and maintained a normal karyotype. It can be used as 2D and 3D models to investigate the underlying pathogenic mechanism and lay a solid foundation for future personalized therapy. Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Chen L, Wang J, Yang T, Xie L, Cui Z, Yu Q, Zhong J, Chan HF, Xue Y, Guo Y, Chen J |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2023 Apr;68:103055 |
| PubMed | 36863132 |
| DOI | 10.1016/j.scr.2023.103055 |