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Generation and Characterization of Induced Pluripotent Stem Cells and Retinal Organoids From a Leber’s Congenital Amaurosis Patient With Novel RPE65 Mutations
RPE65-associated Leber congenital amaurosis (LCA) is one of highly heterogeneous, early onset, severe retinal dystrophies with at least 130 gene mutation sites identified. Their pathogenicity has not been directly clarified due to lack of diseased cells. Here, we generated human-induced pluripotent...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6749091/ https://www.ncbi.nlm.nih.gov/pubmed/31572124 http://dx.doi.org/10.3389/fnmol.2019.00212 |