Stem Cell Research (Dec 2020)

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

Journal volume & issue
Vol. 49
p. 102017

Abstract

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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.