Establishment of an induced pluripotent stem (iPS) cell line from dermal fibroblasts of an asymptomatic patient with dominant PRPF31 mutation.
Sign Up to like & getrecommendations! Published in 2017 at "Stem cell research"
DOI: 10.1016/j.scr.2017.10.007
Abstract: A human iPS cell line was generated from fibroblasts of a phenotypically unaffected patient from a family with PRPF31-associated retinitis pigmentosa (RP). The transgene-free iPS cells were generated with the human OSKM transcription factors using… read more here.
Keywords: prpf31; cell line; ips cell; establishment induced ... See more keywords
Exploring copy number variations in Lebanese families with rod-cone dystrophy reveals a novel deletion in PRPF31 with haploinsufficiency
Sign Up to like & getrecommendations! Published in 2025 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2025.2495945
Abstract: ABSTRACT Background and Objectives Rod-cone dystrophy (RCD), also known as retinitis pigmentosa, is the most common group of retinal dystrophies, affecting around 1:4,000 individuals worldwide. In the present work, we performed a copy number variation… read more here.
Keywords: deletion; prpf31; rod cone; cone dystrophy ... See more keywords
Clinical Evidence for the Importance of the Wild-Type PRPF31 Allele in the Phenotypic Expression of RP11
Sign Up to like & getrecommendations! Published in 2021 at "Genes"
DOI: 10.3390/genes12060915
Abstract: PRPF31-associated retinopathy (RP11) is a common form of autosomal dominant retinitis pigmentosa (adRP) that exhibits wide variation in phenotype ranging from non-penetrance to early-onset RP. Herein, we report inter-familial and intra-familial variation in the natural… read more here.
Keywords: prpf31; type prpf31; patterns observed; prpf31 allele ... See more keywords