Generation of human induced pluripotent stem cell line (BCRTi006-A) from a patient with focal segmental glomerulosclerosis disease

Stem Cell Res. 2023 Jun:69:103070. doi: 10.1016/j.scr.2023.103070. Epub 2023 Mar 21.

Abstract

Individuals with transient reception potential cation channel 6 (TRPC6) mutation have variable phenotypes, ranging from healthy carriers to focal segmental glomerulosclerosis (FSGS). Human induced pluripotent stem cell (hiPSC) line was generated from the urinary cells of a patient with FSGS with a mutant variant of TRPC6. The cells were reprogrammed with Yamanaka factors (OCT3, SOX2, LIN28, L-MYC, and KLF4) using a commercially available Epi5 Reprogramming Kit. The pluripotency of the hiPSC line was confirmed by the expression of common stem cell markers and by their ability to generate all germ layers in vitro. The line is available and registered in the human pluripotent stem cell registry as BCRTi006-A. The generated line represents a valuable tool for disease modeling and drug development for FSGS.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Differentiation
  • Cellular Reprogramming
  • Glomerulosclerosis, Focal Segmental* / genetics
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Mutation
  • Pluripotent Stem Cells*
  • TRPC6 Cation Channel / genetics
  • TRPC6 Cation Channel / metabolism

Substances

  • TRPC6 Cation Channel