从患有年轻型2型成年发病型糖尿病（MODY2）和因GCK基因突变导致的永久性新生儿糖尿病患者中生成两条人诱导多能干细胞系。
Generation of two human iPSC lines from patients with maturity-onset diabetes of the young type 2 (MODY2) and permanent neonatal diabetes due to mutations in the GCK gene.
作者信息
Aqel Yasmin W Abu, Ali Gowher, Elsayed Ahmed K, Al-Khawaga Sara, Hussain Khalid, Abdelalim Essam M
机构信息
College of Health and Life Sciences, Hamad Bin Khalifa University (HBKU), Qatar Foundation (QF), Education City, Doha, Qatar; Diabetes Research Center, Qatar Biomedical Research Institute (QBRI), Hamad Bin Khalifa, University (HBKU), Qatar Foundation (QF), Education City, PO Box 34110, Doha, Qatar.
Diabetes Research Center, Qatar Biomedical Research Institute (QBRI), Hamad Bin Khalifa, University (HBKU), Qatar Foundation (QF), Education City, PO Box 34110, Doha, Qatar.
出版信息
Stem Cell Res. 2020 Oct;48:101991. doi: 10.1016/j.scr.2020.101991. Epub 2020 Sep 13.
Heterozygous and homozygous mutations in the glucokinase (GCK) gene leads to maturity-onset diabetes of the young type 2 (MODY2) and permanent neonatal diabetes (PNDM), respectively. Here, we report the generation of two induced pluripotent stem cell (iPSC) lines, QBRIi010-A and QBRIi011-A, from patients with MODY2 and PNDM due to mutations in the GCK gene (c.437 T > C). The generated iPSC lines displayed pluripotency characteristics, were able to differentiate into the three germ layers, and showed normal karyotypes. These iPSC lines will serve as valuable human cell models for understanding diabetes pathogenesis and developing new therpaies for diabetes.
葡萄糖激酶（GCK）基因的杂合突变和纯合突变分别导致青少年发病的2型糖尿病（MODY2）和永久性新生儿糖尿病（PNDM）。在此，我们报告了从因GCK基因（c.437 T>C）突变而患有MODY2和PNDM的患者中产生了两个诱导多能干细胞（iPSC）系，即QBRIi010-A和QBRIi011-A。所产生的iPSC系表现出多能性特征，能够分化为三个胚层，并显示出正常的核型。这些iPSC系将作为有价值的人类细胞模型，用于理解糖尿病发病机制和开发糖尿病新疗法。
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