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Article

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

Stem cell research - 1 Jun 2023

Ukaji Takao, Takahashi-Shibata Mikako, Arai Daisuke, Tsutsumi Harumi, Tajima Shori, Akamatsu Wado, Matsumoto Fumihiko, Ikeda Katsuhisa, Usami Shin-Ichi, Kamiya Kazusaku

Abstract excerpt

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...

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Identifiers

PMID: 37099934
DOI: 10.1016/j.scr.2023.103100

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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