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Generation of induced pluripotent stem cells from a patient with hearing loss carrying OPA1 c.1468T>C (p.Cys490Arg) variant.

Stem cell research - 1 Oct 2022

Chan Yen-Hui, Ho Chang-Han, Tsai Cheng-Yu, Lu Ying-Chang, Lin Pei-Hsuan, Chen Ta-Ching, Chen You-Tzung, Huang Cheng-Yen, Liu Tien-Chen, Hsu Chuan-Jen, Wu Chen-Chi

Abstract excerpt

Pathogenic variants of OPA1 have been associated with autosomal dominant optic atrophy (DOA), leading to optic, auditory, and other sensorineural neuropathies and myopathies. Using the Sendai virus delivery system, we generated induced pluripotent stem cells from the peripheral blood mononuclear cells of a female patient with the OPA1 pathogenic variant c.1468T>C (p.Cys490Arg). The resulting induced pluripotent...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Optic Atrophy, Autosomal Dominant

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Identifiers

PMID: 36075118
DOI: 10.1016/j.scr.2022.102903

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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