Article
In vitro modeling and rescue of ciliopathy associated with IQCB1/NPHP5 mutations using patient-derived cells.
Stem cell reports - 11 Oct 2022
Kruczek Kamil, Qu Zepeng, Welby Emily, Shimada Hiroko, Hiriyanna Suja, English Milton A, Zein Wadih M, Brooks Brian P, Swaroop Anand
Abstract excerpt
Mutations in the IQ calmodulin-binding motif containing B1 (IQCB1)/NPHP5 gene encoding the ciliary protein nephrocystin 5 cause early-onset blinding disease Leber congenital amaurosis (LCA), together with kidney dysfunction in Senior-Løken syndrome. For in vitro disease modeling, we obtained dermal fibroblasts from patients with NPHP5-LCA that were reprogrammed into induced pluripotent stem cells (iPSCs) and...
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