Article
Gene regulation analysis of patient-derived iPSCs and its CRISPR-corrected control provides a new tool for studying perturbations of ELMOD3 c.512A>G mutation during the development of inherited hearing loss.
PloS one - 1 Jan 2023
Liu Xianlin, Wen Jie, Liu Xuezhong, Chen Anhai, Li Sijun, Liu Jing, Sun Jie, Gong Wei, Kang Xiaoming, Feng Zhili, He Chufeng, Mei Lingyun, Ling Jie, Feng Yong
Abstract excerpt
The ELMOD3 gene is implicated in causing autosomal recessive/dominant non-syndromic hearing loss in humans. However, the etiology has yet to be completely elucidated. In this study, we generated a patient-derived iPSC line carrying ELMOD3 c.512A>G mutation. In addition, the patient-derived iPSC line was corrected by CRISPR/Cas9 genome editing system. Then we applied RNA sequencing profiling to compare the...
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