Article
Generation of an induced pluripotent stem cell line from a late-onset, progressive high frequency hearing loss patient due to mutation in CDH23.
Stem cell research - 1 Sept 2024
Arai Daisuke, Takahashi-Shibata Mikako, Ukaji Takao, Tsutsumi Harumi, Tajima Shori, Nishio Shin-Ya, Ishikawa Kei-Ichi, Akamatsu Wado, Matsumoto Fumihiko, Ikeda Katsuhisa, Usami Shin-Ichi, Kamiya Kazusaku
Abstract excerpt
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...
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