Article

Human iPSC modeling reveals mutation-specific responses to gene therapy in Best disease

2019-10-08

Abstract excerpt

Dominantly inherited disorders are not typically considered therapeutic candidates for gene augmentation. Here, we utilized patient-specific induced pluripotent stem cell-derived retinal pigment epithelium (iPSC-RPE) to test the potential of gene augmentation to treat Best disease, a dominant macular dystrophy caused by over 200 missense mutations in BEST1 . Gene augmentation in iPSC-RPE fully restored BEST1 calc...

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Literature Corpus work: a98e2234-6180-582d-9f40-fc3f682a1e8e
DOI: 10.1101/796581

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