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. Published by Elsevier B.V.

Authors Chen L, Wang J, Yang T, Xie L, Cui Z, Yu Q, Zhong J, Chanf HF, Xue Y, Guo Y, Chen J
Journal Stem cell research
Publication Date 2023 Feb 28;68:103055
PubMed 36863132
DOI 10.1016/j.scr.2023.103055

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