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

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• 作者：Xianming Wang^a ; ^b ; ⁱ ; Shen Chen^c ; Ingo Burtscher^a ; ^b ; Michael Sterr^a ; ^b ; Anja Hieronimus^d ; ^e ; ^j ; Fausto Machicao^f ; ^j ; Harald Staiger^d ; ^g ; ^j ; Hans-Ulrich Hä ; ring^d ; ^e ; ^j ; Gabriele Lederer^k ; Thomas Meitinger^h ; ^k ; Heiko Lickert^a ; ^b ; ⁱ ; ^j ; ^{heiko.lickert@helmholtz-muenchen.de" class="auth_mail" title="E-mail the corresponding author}
• 刊名：Stem Cell Research
• 出版年：2016
• 出版时间：September 2016
• 年：2016
• 卷：17
• 期：2
• 页码：292-295
• 全文大小：1111 K

文摘

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 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.