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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.
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.
Affiliation
  • Liu X; Department of Otolaryngology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Wen J; Key Laboratory of Otolaryngology Major Disease Research of Hunan Province, Changsha, Hunan, China.
  • Liu X; Department of Otolaryngology Head and Neck Surgery, The Affiliated Changsha Central Hospital, Hengyang Medical School, University of South China, Changsha, Hunan, China.
  • Chen A; Institute of Otolaryngology Head and Neck Surgery, University of South China, Changsha, Hunan, China.
  • Li S; Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL, United States of America.
  • Liu J; Department of Otolaryngology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Sun J; Key Laboratory of Otolaryngology Major Disease Research of Hunan Province, Changsha, Hunan, China.
  • Gong W; Department of Otolaryngology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Kang X; Key Laboratory of Otolaryngology Major Disease Research of Hunan Province, Changsha, Hunan, China.
  • Feng Z; Department of Otolaryngology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • He C; Key Laboratory of Otolaryngology Major Disease Research of Hunan Province, Changsha, Hunan, China.
  • Mei L; Department of Otolaryngology Head and Neck Surgery, The Eighth Affiliated Hospital, Sun Yat-sen University, Futian District, Shenzhen, China.
  • Ling J; Department of Otolaryngology Head and Neck Surgery, The Affiliated Changsha Central Hospital, Hengyang Medical School, University of South China, Changsha, Hunan, China.
  • Feng Y; Institute of Otolaryngology Head and Neck Surgery, University of South China, Changsha, Hunan, China.
PLoS One ; 18(9): e0288640, 2023.
Article in En | MEDLINE | ID: mdl-37708136
ABSTRACT
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 patient-derived iPSC line with different controls, respectively (the healthy sibling-derived iPSCs and the CRISPR/Cas9 corrected iPSCs). Functional enrichment and PPI network analysis revealed that differentially expressed genes (DEGs) were enriched in the gene ontology, such as sensory epithelial development, intermediate filament cytoskeleton organization, and the regulation of ion transmembrane transport. Our current work provided a new tool for studying how disruption of ELMOD3 mechanistically drives hearing loss.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Deafness / Induced Pluripotent Stem Cells / Hearing Loss Limits: Humans Language: En Journal: PLoS One Journal subject: CIENCIA / MEDICINA Year: 2023 Document type: Article Affiliation country: China
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Deafness / Induced Pluripotent Stem Cells / Hearing Loss Limits: Humans Language: En Journal: PLoS One Journal subject: CIENCIA / MEDICINA Year: 2023 Document type: Article Affiliation country: China