Generation of a human induced pluripotent stem cell line (CPGHi001-A) from a hearing loss patient with the TMC1 p.M418K mutation
Summary
By using a nonintegrating plasmid delivery system, we generated induced pluripotent stem cells (iPSCs) from the urine cells of a male patient from the family carrying the TMC1 p.M418K mutation. This mutation is homologous to that in Beethoven mice, which were treated by gene editing successfully. The resulting iPSCs had a normal karyotype, showed pluripotency by immunofluorescence staining, and differentiated into the three germ layers in vivo. This cellular model will provide a useful platform for investigating the pathogenic mechanisms of TMC1-related deafness, further laying the foundation for clinical transformation applications and providing a reference for the final gene therapy in humans. Copyright © 2020. Published by Elsevier B.V.
| Authors | Wang H, Wu K, Guan J, Wang Q |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2020 Dec;49:101982 |
| PubMed | 33217648 |
| DOI | 10.1016/j.scr.2020.101982 |