Generation and characterization of a human iPSC line (JUFMDOi007-A) from a patient with Usher syndrome due to mutation in USH2A


Usher syndrome type 2A (USH2A) gene mutations have been identified as the most frequent genetic causes of hereditary deafness in Usher syndrome, and an effective treatment has yet to be established. The encoded protein, Usherin, is essential for the ankle link associated with extracellular connections between the stereocilia of inner ear hair cells. We report the generation of a patient-derived USH2A iPSC line with compound mutations c.1907_1912ATGTTT > TCACAG (p.D636V + V637T + C638G) and c.8328_8329delAA (p.L2276fs*12). The iPSC showed the expression of pluripotency markers, the ability to differentiate into three germ layers in vitro, and USH2A mutations with normal karyotype. Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Ukaji T, Takahashi-Shibata M, Arai D, Tsutsumi H, Tajima S, Akamatsu W, Matsumoto F, Ikeda K, Usami SI, Kamiya K
Journal Stem cell research
Publication Date 2023 Jun;69:103100
PubMed 37099934
DOI 10.1016/j.scr.2023.103100

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