Establishment of iPS cell line (KLRMMEi003-A) from a patient with Usher syndrome due to USH2A mutation


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

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