Establishment of PLAFMCi005-A induced pluripotent stem cells derived from PBMC from a patient with renal cysts and diabetes syndrome

Stem Cell Res. 2021 Aug:55:102485. doi: 10.1016/j.scr.2021.102485. Epub 2021 Aug 2.

Abstract

Renal cysts and diabetes syndrome (RCAD) is caused by gene mutations in hepatocyte nuclear factor 1-β (HNF1B), but the underlying molecular mechanism is still unclear. This study established PLAFMCi005-A human induced pluripotent stem cells (iPSCs) by reprogramming peripheral blood mononuclear cells (PBMCs) from an RCAD patient. PLAFMCi005-A has differentiation potential and can be used to investigate the pathogenesis of RCAD caused by HNF1B gene mutations, thus promoting the development of related drugs.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cellular Reprogramming
  • Central Nervous System Diseases
  • Dental Enamel / abnormalities
  • Diabetes Mellitus, Type 2*
  • Humans
  • Induced Pluripotent Stem Cells*
  • Kidney Diseases, Cystic* / genetics
  • Leukocytes, Mononuclear

Supplementary concepts

  • Renal cysts and diabetes syndrome