Associated Papers
PRPF8 Mutation-Induced Defects in Human iPSC-Derived RPE Are Rescued by Adenine Base Editing.
Sun X et al.
Investigative Ophthalmology & Visual Science, 2026
Generation of a gene-corrected isogenic human iPS cell line (CSUASOi006-A-2) from a retinitis pigmentosa patient using CRISPR/Cas9 technology.
Chen H et al.
Stem Cell Research, 2025
Generation of a human iPSC line with heterozygous PRPF8 c.5792C > T, p. T1931M mutation to model retinitis pigmentosa using CRISPR/Cas9 technology.
Chen H et al.
Stem Cell Research, 2025
Generation of a gene-corrected isogenic human iPSC line (CSUASOi006-A-1) from a retinitis pigmentosa patient with heterozygous c.5792C > T mutation in the PRPF8 gene.
Sun X et al.
Stem Cell Research, 2024
Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases.
Liang Y et al.
Stem Cell Research & Therapy, 2023
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM et al.
Frontiers in Cell and Developmental Biology, 2023
36819107 (PubMed )
Supplement: Table4.xlsx › Results
Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes.
Tracewska AM et al.
Molecular Vision, 2021
Establishment of non-integrate induced pluripotent stem cell line CSUASOi006-A, from urine-derived cells of a PRPF8-related dominant retinitis pigmentosa patient.
Zhou Y et al.
Stem Cell Research, 2020
Variant Profiling of a Large Cohort of 138 Chinese Families With Autosomal Dominant Retinitis Pigmentosa.
Xiao T et al.
Frontiers in Cell and Developmental Biology, 2020
Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.
Jones KD et al.
Molecular Vision, 2017
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