The development of functional assays with u-RPC obtained from patients with genetic kidney disorders could serve as a fundamental step for rapid testing of putative pathogenic mutations. In particular, this tool can provide an essential support for the clinical diagnosis of nephrotic syndrome in patients carrying variants of uncertain significance in podocyte genes. The results of this study demonstrate that u-RPC cultures represent an innovative research tool which provide information to optimize an affected individual’s personalized medical care.

URINE-DERIVED HUMAN RENAL PROGENITOR CULTURES FOR MODELING OF GENETIC KIDNEY DISORDERS

GIGLIO, SABRINA RITA;
2014-01-01

Abstract

The development of functional assays with u-RPC obtained from patients with genetic kidney disorders could serve as a fundamental step for rapid testing of putative pathogenic mutations. In particular, this tool can provide an essential support for the clinical diagnosis of nephrotic syndrome in patients carrying variants of uncertain significance in podocyte genes. The results of this study demonstrate that u-RPC cultures represent an innovative research tool which provide information to optimize an affected individual’s personalized medical care.
2014
Renal progenitor cell
chronic kidney disease
next generation sequencing
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11584/297575
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