Associated Papers
A Novel N-Terminal PRPF6 Variant in Autosomal Dominant Retinitis Pigmentosa.
Li N et al.
Clinical Case Reports, 2026
CRISPR/Cas9-mediated generation of a human induced pluripotent stem cell line with PRPF6 c.2699 G > A mutation to model retinitis pigmentosa.
Liang Y et al.
Stem Cell Research, 2024
Highly efficient capture approach for the identification of diverse inherited retinal disorders.
Kao HJ et al.
Npj Genomic Medicine, 2024
38195571 (PubMed )
Supplement: 41525_2023_388_MOESM4_ESM.xlsx › Solved_cases
Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases.
Liang Y et al.
Stem Cell Research & Therapy, 2023
Familial Whole Exome Sequencing Study of 30 Families With Early-Onset High Myopia.
Yang E et al.
Investigative Ophthalmology & Visual Science, 2023
Generation of a gene-corrected human iPSC line (CSUASOi004-A-1) from a retinitis pigmentosa patient with heterozygous c.2699 G>A mutation in the PRPF6 gene.
Liang Y et al.
Stem Cell Research, 2022
Aberrant Retinal Pigment Epithelial Cells Derived from Induced Pluripotent Stem Cells of a Retinitis Pigmentosa Patient with the PRPF6 Mutation.
Liang Y et al.
International Journal of Molecular Sciences, 2022
Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.
Chen TC et al.
Npj Genomic Medicine, 2021
33608557 (PubMed )
Supplement: 41525_2021_180_MOESM2_ESM.xlsx › ___1
Establishment of induced pluripotent stem cell line CSUASOi004-A by reprogramming peripheral blood mononuclear cells of a PRPF6-related dominant retinitis pigmentosa patient.
Zhou Y et al.
Stem Cell Research, 2020
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