Generation of a human induced pluripotent stem cell line (CPGHi001-A) from a hearing loss patient with the TMC1 p.M418K mutation.

ola Kala shared this article with you from Inoreader Generation of a human induced pluripotent stem cell line (CPGHi001-A) from a hearing loss patient with the TMC1 p.M418K mutation. Μέσω pubmed: familial hearing los... Related Articles Generation of a human induced pluripotent stem cell line (CPGHi001-A) from a hearing loss patient with the TMC1 p.M418K mutation. Stem Cell Res. 2020 Sep 03;49:101982 Authors: Wang H, Wu K, Guan J, Wang Q Abstract 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. PMID: 33217648 [PubMed - as supplied by publisher] View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.