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Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles.

Elisa MolinariShalabh SrivastavaRebecca M DewhurstJohn Andrew Sayer
Published in: BMC nephrology (2020)
We confirm the power of URECs as a tool for functional studies on candidate variants in inherited renal disease, especially when the expression of the gene of interest is restricted to the kidney and we describe, for the first time, ciliary abnormalities in ARPKD patient cells.
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