Generation and characterization of two iPSC lines carrying heterozygous or homozygous nonsense mutation in PROM1 gene from a single family

PROM1-related retinal dystrophy (PROM1-RD) is a group of hereditary retinal disorder characterized by the progressive damage of the photoreceptors. We generated and identified two induced pluripotent stem cell (iPSC) lines carrying homozygous or heterozygous nonsense mutation c.619G > T (p.E207X) in PROM1 gene from a patient with PROM1-RD and his healthy mother, respectively. Both iPSC lines maintained the typical stem cell morphology, genomic stability and pluripotency. These iPSC lines have great potential to elucidate the disease mechanisms and develop the feasible treatments of PROM1-RD.

Automated summary

PROM1-related retinal dystrophy is a hereditary retinal disorder that causes progressive damage to the photoreceptors. By studying induced pluripotent stem cell lines from a patient with PROM1-related retinal dystrophy and his healthy mother, we can gain insights into the disease mechanisms and potentially develop treatments.