PuSH - Publikationsserver des Helmholtz Zentrums München: Generation of a human induced pluripotent stem cell (iPSC) line from a patient with family history of diabetes carrying a C18R mutation in the <em>PDX1</em> gene.

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Wang, X. ; Chen, S.* ; Burtscher, I. ; Sterr, M. ; Hieronimus, A. ; Machicao, F. ; Staiger, H. ; Häring, H.-U. ; Lederer, G.* ; Meitinger, T. ; Lickert, H.

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.

Stem Cell Res. 17, 292-295 (2016)

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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 associatedwithMaturity-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.

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