In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations

Published 2017 View Full Article

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Title
In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations
Authors
Keywords
ciliopathies, LCA, Joubert syndrome, retinal degeneration, organoid, iPSC, Hedgehog signaling, ciliogenesis, ciliary transition zone, primary cilia
Journal
Cell Reports
Volume 20, Issue 2, Pages 384-396
Publisher
Elsevier BV
Online
2017-07-12
DOI
10.1016/j.celrep.2017.06.045

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