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
Summary
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. Copyright © 2020. Published by Elsevier B.V.
| Authors | Gosstola NC, Huang Z, Tong X, Nourbakhsh A, Chen ZY, Dykxhoorn DM, Zhong Liu X |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2020 Dec;49:102017 |
| PubMed | 33038743 |
| DOI | 10.1016/j.scr.2020.102017 |