Establishment of an induced pluripotent stem cell line (NCKDi003-A) from a patient with X-linked Dent disease (X-Dent) carrying the hemizygote mutation p. T277P (c. 829A > C) in the CLCN5 gene.
Sign Up to like & getrecommendations! Published in 2021 at "Stem cell research"
DOI: 10.1016/j.scr.2021.102538
Abstract: Dent disease (DD) is a rare X-linked proximal tubulopathy associated with low molecular weight proteinuria (LMWP), hypercalciuria, nephrolithiasis and phosphoruria, which may progress to chronic kidney disease (CKD). About 60% of cases are caused by… read more here.
Keywords: line; clcn5 gene; disease; stem ... See more keywords
A Study on the CLCN5 Gene in Iranian Patients: A Report of Novel and Recurrent Mutations.
Sign Up to like & getrecommendations! Published in 2023 at "Nephron"
DOI: 10.1159/000528344
Abstract: INTRODUCTION Dent's disease is an X-linked inherited renal tubular disorder characterized by proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, rickets, and end-stage renal disease. Almost 60% of patients have causative mutations in the CLCN5 gene (Dent 1), and… read more here.
Keywords: gene iranian; dent disease; clcn5 gene; iranian patients ... See more keywords