Generation of a human iPSC line from a patient with retinitis pigmentosa caused by mutation in PRPF8 gene.
Sign Up to like & getrecommendations! Published in 2017 at "Stem cell research"
DOI: 10.1016/j.scr.2017.03.007
Abstract: The human iPSC cell line, RP2-FiPS4F1 (RCPFi001-A), derived from dermal fibroblasts from the patient with retinitis pigmentosa caused by the mutation of the gene PRPF8, was generated by non-integrative reprogramming technology using OCT3/4, SOX2, CMYC… read more here.
Keywords: caused mutation; line; patient retinitis; retinitis pigmentosa ... See more keywords
Analysis of PDE6G mutations in a patient with retinitis pigmentosa
Sign Up to like & getrecommendations! Published in 2024 at "BMC Ophthalmology"
DOI: 10.1186/s12886-024-03623-2
Abstract: Mutations in PDE6A and PDE6B are known to cause autosomal recessive RP in humans, On the other hand, mutations in PDE6G are rare but can lead to severe early-onset RP. An 8-year-old Chinese boy was… read more here.
Keywords: pde6g mutations; analysis; pde6g; analysis pde6g ... See more keywords