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
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2016
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Abstract
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.
| Reference Key |
wang2016stemgeneration
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| Authors | ;Xianming Wang;Shen Chen;Ingo Burtscher;Michael Sterr;Anja Hieronimus;Fausto Machicao;Harald Staiger;Hans-Ulrich Häring;Gabriele Lederer;Thomas Meitinger;Heiko Lickert |
| Journal | journal of energy chemistry |
| Year | 2016 |
| DOI |
10.1016/j.scr.2016.08.005
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