What question did this study set out to answer?

The research aims to generate iPSC lines from patients with OTOF-related deafness to explore treatment options.

April 16, 2026Stem Cell Research0 citationsOpen Access

Generation of human induced pluripotent stem cell lines from a patient with OTOF-related deafness and a carrier relative

MYMeirong YuSecond Affiliated Hospital of Zhejiang University YHYangYiYi HuangSecond Affiliated Hospital of Zhejiang University 林林鹏方Second Affiliated Hospital of Zhejiang University

Key Points

The research aims to generate iPSC lines from patients with OTOF-related deafness to explore treatment options.
Generated two iPSC lines via transgene-free episomal reprogramming.
Lines derived from a patient with compound heterozygous mutations and a heterozygous carrier.
Evaluated pluripotency, karyotype, and trilineage differentiation.
Both iPSC lines demonstrated normal pluripotency and karyotype.
iPSC lines serve as tools for mechanistic studies and gene therapy optimization.
ZEENTi002-A allows for comparison of heterozygous mutation effects on hearing.

Abstract

OTOF-related deafness (DFNB9) is an auditory neuropathy caused by mutations in the OTOF gene, disrupting synaptic transmission in the inner ear. We generated two human induced pluripotent stem cell (iPSC) lines using transgene-free episomal reprogramming: ZEENTi001-A from a patient with compound heterozygous OTOF mutations (c.2122C > T and c.5197G > A) and ZEENTi002-A from a heterozygous carrier. Both lines demonstrated normal pluripotency, karyotype, and trilineage differentiation, serving as critical tools for mechanistic studies, gene therapy optimization, and drug screening in DFNB9. ZEENTi002-A further enables comparative analyses to elucidate heterozygous mutation effects in auditory pathology.

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