Characterization of UMi028-A-1 stem cell line that contains a CRISPR/Cas9 induced hearing loss-associated variant (V60L (c.178G > T)) in the P2RX2 gene

Nicholas C. Gosstola, Zaohua Huang, Xiaoying Tong, Aida Nourbakhsh, Zheng Yi Chen, Derek M. Dykxhoorn, Xue Zhong Liu

Research output: Contribution to journalArticlepeer-review

Abstract

UMi028-A-1 hiPSC line contains a CRISPR/Cas9-induced heterozygous, hearing loss-associated variant (V60L (GTA > TTA)) in the Purinergic Receptor P2X2 (P2RX2) gene. This line, derived from an unaffected male iPSC line, has been successfully characterized for its cellular and genetic properties. The c.178G > T variant in P2RX2 is associated with non-syndromic, dominant, progressive hearing loss. Once differentiated into inner ear cell types, UMi028-A-1 will serve as a resource for understanding the molecular mechanisms underlying hearing loss and serve as a potential platform for testing therapeutic approaches to restore inner ear function.

Original languageEnglish (US)
Article number102017
JournalStem Cell Research
Volume49
DOIs
StatePublished - Dec 2020

ASJC Scopus subject areas

  • Developmental Biology
  • Cell Biology

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