Stem Cell Research (May 2018)

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

  • Frank Griscelli,
  • Hélène Ezanno,
  • Mathis Soubeyrand,
  • Olivier Feraud,
  • Noufissa Oudrhiri,
  • Amélie Bonnefond,
  • Ali G. Turhan,
  • Philippe Froguel,
  • Annelise Bennaceur-Griscelli

Journal volume & issue
Vol. 29
pp. 56 – 59

Abstract

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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.