Generation of an induced pluripotent stem cell line from a late-onset, progressive high frequency hearing loss patient due to mutation in CDH23
Summary
Cadherin 23 (CDH23) is one of the most common genes responsible for hereditary hearing loss; a mutation of CDH23 can cause a wide range of symptoms depending on the variant. In this study, an iPSC line was generated from a patient with late-onset, progressive high frequency hearing loss caused by c.[719C > T];[6085C > T]:p.[P240L];[R2029W] compound heterozygous variants of CDH23. The cells were confirmed to have a normal karyotype, express markers of pluripotency, and have tri-embryonic differentiation potential. This disease-specific iPSC line will further the construction of disease models and the elucidation of the pathophysiology of CDH23 mutations. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Arai D, Takahashi-Shibata M, Ukaji T, Tsutsumi H, Tajima S, Nishio SY, Ishikawa KI, Akamatsu W, Matsumoto F, Ikeda K, Usami SI, Kamiya K |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Sep;79:103471 |
| PubMed | 38878669 |
| DOI | 10.1016/j.scr.2024.103471 |