Patient-specific iPSCs to investigate TRNT1-associated RP

March 18th, 2017

A team of  WIVR researchers have developed patient-specific iPSCs, which will provide a platform for testing multiple treatments in patients suffering from TRNT1-associated RP. We previously identified novel hypomorphic mutations in the tRNA Nucleotidyl Transferase, CCA-Adding 1 (TRNT1) gene that cause early-onset RP.  Mutations in TRNT1 caused reduced levels of full-length TRNT1 protein and a deficit in autophagy in both patient-specific iPSCs and iPSC-derived retinal organoids.