Stem Cell Research (Sep 2016)

Generation of a human induced pluripotent stem cell (iPSC) line from a patient with family history of diabetes carrying a C18R mutation in the PDX1 gene

  • Xianming Wang,
  • Shen Chen,
  • Ingo Burtscher,
  • Michael Sterr,
  • Anja Hieronimus,
  • Fausto Machicao,
  • Harald Staiger,
  • Hans-Ulrich Häring,
  • Gabriele Lederer,
  • Thomas Meitinger,
  • Heiko Lickert

DOI
https://doi.org/10.1016/j.scr.2016.08.005
Journal volume & issue
Vol. 17, no. 2
pp. 292 – 295

Abstract

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Homozygous loss-of-function mutations in the gene coding for the homeobox transcription factor PDX1 leads to pancreatic agenesis, whereas certain heterozygous point mutations are associated with Maturity-Onset Diabetes of the Young 4 (MODY4) and Type 2 Diabetes Mellitus (T2DM). To understand the pathomechanism of MODY4 and T2DM, we have generated iPSCs from a woman with a C18R heterozygous mutation in the transactivation domain of PDX1. The resulting PDX1 C18R iPSCs generated by episomal reprogramming are integration-free, have a normal karyotype and are pluripotent in vitro and in vivo. Taken together, this iPSC line will be useful to study diabetes pathomechanisms.