Identification of renal cyst cells of type I Nephronophthisis by single-nucleus RNA sequencing.

Nephronophthisis (NPH) is the most common genetic cause of end-stage renal disease (ESRD) in childhood, and is the major pathogenic gene. Cyst formation at the corticomedullary junction is a pathological feature of NPH, but the mechanism underlying cystogenesis is not well understood. The isolation and identification of cystic cell subpopulation could help to identify their origins and provide vital clues to the mechanisms underlying cystogenesis in NPH.