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Titel:

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

Dokumenttyp:
Journal Article
Autor(en):
Wang, Xianming; Chen, Shen; Burtscher, Ingo; Sterr, Michael; Hieronimus, Anja; Machicao, Fausto; Staiger, Harald; Häring, Hans-Ulrich; Lederer, Gabriele; Meitinger, Thomas; Lickert, Heiko
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 reprogr...     »
Zeitschriftentitel:
Stem Cell Res
Jahr:
2016
Band / Volume:
17
Heft / Issue:
2
Seitenangaben Beitrag:
273-276
Sprache:
eng
Volltext / DOI:
doi:10.1016/j.scr.2016.08.004
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/27879211
Print-ISSN:
1873-5061
TUM Einrichtung:
Institut für Humangenetik
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