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- W2596752718 abstract "Retinitis pigmentosa (RP) is a heterogeneous group of monogenic disorders characterized by progressive death of the light-sensing photoreceptor cells of the outer neural retina. We recently identified novel hypomorphic mutations in the tRNA Nucleotidyl Transferase, CCA-Adding 1 (TRNT1) gene that cause early-onset RP. To model this disease in vitro, we generated patient-specific iPSCs and iPSC-derived retinal organoids from dermal fibroblasts of patients with molecularly confirmed TRNT1-associated RP. Pluripotency was confirmed using rt-PCR, immunocytochemistry, and a TaqMan Scorecard Assay. Mutations in TRNT1 caused reduced levels of full-length TRNT1 protein and expression of a truncated smaller protein in both patient-specific iPSCs and iPSC-derived retinal organoids. Patient-specific iPSCs and iPSC-derived retinal organoids exhibited a deficit in autophagy, as evidenced by aberrant accumulation of LC3-II and elevated levels of oxidative stress. Autologous stem cell-based disease modeling will provide a platform for testing multiple avenues of treatment in patients suffering from TRNT1-associated RP." @default.
- W2596752718 created "2017-03-23" @default.
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- W2596752718 date "2017-05-01" @default.
- W2596752718 modified "2023-10-16" @default.
- W2596752718 title "Patient-specific induced pluripotent stem cells to evaluate the pathophysiology of TRNT1 -associated Retinitis pigmentosa" @default.
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- W2596752718 doi "https://doi.org/10.1016/j.scr.2017.03.005" @default.
- W2596752718 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/28390992" @default.
- W2596752718 hasPublicationYear "2017" @default.
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