Assessing Variant Causality and Severity Using Retinal Pigment Epithelial Cells Derived from Stargardt Disease Patients.

Anna Matynia,Jun Wang,Sangbae Kim,Yumei Li, Anupama Dimashkie,Zhichun Jiang,Jane Hu,Samuel P Strom,Roxana A Radu,Rui Chen,Michael B Gorin

Translational vision science & technology（2022）

引用 3|浏览17

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摘要

This "Disease in a Dish" approach is likely to enhance the ability of patients to participate in and benefit from clinical trials while providing insights into perturbations in RPE biology.

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关键词

induced pluripotent stem cells, retinal pigment epithelium, Stargardt disease, macular degeneration, molecular genetics, mutation, transcriptome, allele specific imbalance, genotype-phenotype correlation

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