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Generation of a human induced pluripotent stem cell (iPSC) line from a patient carrying a P33T mutation in the PDX1 gene.

Stem cell research - 1 Sept 2016

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

Abstract excerpt

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 P33T heterozygous mutation in the...

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Identifiers

PMID: 27879211
DOI: 10.1016/j.scr.2016.08.004

Genes

PDX1

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