Generation of an induced pluripotent stem cell (iPSC) line from a patient with maturity-onset diabetes of the young type 3 (MODY3) carrying a hepatocyte nuclear factor 1-alpha (HNF1A) mutation

Stem Cell Res. 2018 May:29:56-59. doi: 10.1016/j.scr.2018.02.017. Epub 2018 Mar 7.

Abstract

Heterozygous non-synonymous (p.S142F) mutation in HNF1A leads to maturity-onset diabetes of the young (MODY) type 3, which is a subtype of dominant inherited young-onset non-autoimmune diabetes due to the defect of insulin secretion from pancreatic beta cells. We generated induced pluripotent stem cells (iPSCs) from a patient with HNF1A p.S142F mutation. Cells from this patient, which were reprogrammed by non-integrative viral transduction had normal karyotype, harboured the HNF1A p.S142F mutation, expressed pluripotency hallmarks.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Diabetes Mellitus, Type 2 / complications*
  • Diabetes Mellitus, Type 2 / pathology
  • Female
  • Hepatocyte Nuclear Factor 1-alpha / metabolism*
  • Humans
  • Induced Pluripotent Stem Cells / metabolism*
  • Male
  • Mutation

Substances

  • Hepatocyte Nuclear Factor 1-alpha

Supplementary concepts

  • Maturity-Onset Diabetes of the Young, Type 3