Han-Bi Lee

Generation of human induced pluripotent stem cell line (CMCi015-A) from a patient with nephronophthisis harboring compound heterozygous loss-of-function variants in the NPHP4 gene.

Nephronophthisis, an autosomal recessive ciliopathy, is a rare genetic kidney disorder characterized by progressive tubulointerstitial fibrosis, corticomedullary cyst formation, and progression to end-stage renal disease. Here, we established a human induced pluripotent stem cell (hiPSC) line from peripheral blood mono...