Concepedia

Using patient-specific induced pluripotent stem cells to interrogate the pathogenicity of a novel retinal pigment epithelium-specific 65 kDa cryptic splice site mutation and confirm eligibility for enrollment into a clinical gene augmentation trial

Budd A. Tucker, Cathryn M. Cranston, Kristin Anfinson, Suruchi Shrestha, Luan M. Streb, Alejandro León, Robert F. Mullins, Edwin M. Stone

Translational research · 2015 · 29 citations · 24 references

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Concepts

References

24

Induction of Pluripotent Stem Cells from Mouse Embryonic and Adult Fibroblast Cultures by Defined Factors

Kazutoshi Takahashi, Shinya Yamanaka · Cell · 2006 · 26.5K citations · Full text

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Effect of Gene Therapy on Visual Function in Leber's Congenital Amaurosis

James Bainbridge, Alexander J. Smith, Susie S. Barker et al. · New England Journal of Medicine · 2008 · 1.9K citations · Full text

, , +15

Self-Formation of Optic Cups and Storable Stratified Neural Retina from Human ESCs

Tokushige Nakano, Satoshi Ando, Nozomu Takata et al. · Cell stem cell · 2012 · 1.5K citations · Full text

, , +16

Generation of three-dimensional retinal tissue with functional photoreceptors from human iPSCs

Xiufeng Zhong, Christian Gutierrez, Tian Xue et al. · Nature Communications · 2014 · 981 citations · Full text

, , +16

Treatment of Leber Congenital Amaurosis Due to <i>RPE65</i> Mutations by Ocular Subretinal Injection of Adeno-Associated Virus Gene Vector: Short-Term Results of a Phase I Trial

William W. Hauswirth, Tomás S. Alemán, Shalesh Kaushal et al. · Human Gene Therapy · 2008 · 947 citations · Full text

, , +15