Stem Cell Research ( IF 0.8 ) Pub Date : 2020-09-13 , DOI: 10.1016/j.scr.2020.101991 Yasmin W Abu Aqel 1 , Gowher Ali 2 , Ahmed K Elsayed 2 , Sara Al-Khawaga 3 , Khalid Hussain 4 , Essam M Abdelalim 1
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.
中文翻译:
由GCK基因突变引起的年轻2型年轻发病糖尿病和永久性新生儿糖尿病患者产生两条人iPSC系
葡萄糖激酶(GCK)基因中的杂合和纯合突变分别导致年轻的2型年轻糖尿病(MODY2)和永久性新生儿糖尿病(PNDM)。在这里,我们报告了由于GCK基因的突变而从MODY2和PNDM患者中产生了两种诱导性多能干细胞(iPSC)系QBRIi010-A和QBRIi011-A (c.437 T> C)。生成的iPSC品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品系将作为有价值的人类细胞模型,用于了解糖尿病的发病机理并开发新的糖尿病疗法。