Generation of the iPSC line CUIMCi003-A derived from a patient with severe early onset obesity

Stem Cell Res. 2021 Jul:54:102432. doi: 10.1016/j.scr.2021.102432. Epub 2021 Jun 21.

Abstract

Aryl hydrocarbon receptor nuclear translocator 2 (ARNT2) is a basic helix-loop-helix (bHLH/PAS) transcription factor involved in the development of paraventricular nucleus of the hypothalamus (PVH) through the heterodimerization with Single-minded 1 (SIM1) (Michaud et al., 2000). Using a Sendai virus-based approach, the four reprogramming factors OCT3/4, SOX2, KLF4 and C-MYC were delivered into Peripheral Blood Mononuclear Cell (PBMCs) from a 14-year-old girl with early onset obesity carrying a de novo variant (p.P130A) in ARNT2. The resulting iPSC line CUIMCi003-A had a normal karyotype, showed pluripotency and three germ layer differentiation capacity in vitro and was heterozygous for the de novo ARNT2 variant.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Aryl Hydrocarbon Receptor Nuclear Translocator
  • Basic Helix-Loop-Helix Transcription Factors / genetics
  • Basic Helix-Loop-Helix Transcription Factors / metabolism
  • Female
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Kruppel-Like Factor 4
  • Leukocytes, Mononuclear / metabolism
  • Obesity / genetics

Substances

  • Basic Helix-Loop-Helix Transcription Factors
  • KLF4 protein, human
  • Kruppel-Like Factor 4
  • Aryl Hydrocarbon Receptor Nuclear Translocator