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Document type:
journal article 
Author(s):
Wang, Xianming; Chen, Shen; Burtscher, Ingo; Sterr, Michael; Hieronimus, Anja; Machicao, Fausto; Staiger, Harald; Häring, Hans-Ulrich; Lederer, Gabriele; Meitinger, Thomas; Lickert, Heiko 
Title:
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. 
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 reprogr...    »
 
Journal title abbreviation:
Stem Cell Res 
Year:
2016 
Journal volume:
17 
Journal issue:
Pages contribution:
292-295 
Language:
eng 
Print-ISSN:
1873-5061 
TUM Institution:
Institut für Humangenetik