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

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 P33T heterozygous mutation in the transactivation domain of PDX1. The resulting PDX1 P33T 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.

• 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: Stem cell research (Stem Cell Res) Vol. 17 Issue 2 Pg. 273-276 (09 2016) ISSN: 1876-7753 [Electronic] England
• PMID: 27879211 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2016 Helmholtz Zentrum München. Published by Elsevier B.V. All rights reserved.

Chemical References

• Homeodomain Proteins
• Trans-Activators
• Transcription Factors
• pancreatic and duodenal homeobox 1 protein

Topics

• Base Sequence
• Cell Differentiation
• Cell Line
• Cellular Reprogramming
• DNA Mutational Analysis
• Diabetes Mellitus, Type 2 (genetics, metabolism, pathology)
• Female
• Fibroblasts (cytology, metabolism)
• Heterozygote
• Homeodomain Proteins (genetics)
• Humans
• Induced Pluripotent Stem Cells (cytology, metabolism)
• Karyotype
• Microscopy, Fluorescence
• Polymorphism, Single Nucleotide
• Trans-Activators (genetics)
• Transcription Factors (genetics, metabolism)