Pediatric Research Institute, Children's Hospital Affiliated to Shandong University (Jinan Children's Hospital), Jinan 250022, China; Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan 250022, China.
Shandong Provincial Hospital Affiliated to Shandong First Medical University, Ji'nan 250021, China.
Stem Cell Res. 2024 Jun;77:103389. doi: 10.1016/j.scr.2024.103389. Epub 2024 Mar 13.
Maturity-onset diabetes of the young type 2 (MODY2) is an autosomal dominant disorder caused by mutations in the GCK gene. It is characterized by a non-progressive slight increase in glycosylated hemoglobin (HbA1c), and mildly raised fasting glucose. Here, we generated an induced pluripotent stem cell line SDQLCHi063-A from a five-year-old boy with MODY2 carrying exon 1 deletion of the GCK gene (OMIM*138079). The iPSC line carries original gene mutation, expresses pluripotency markers, has normal karyotype and differentiated spontaneously in the three germ layers.
青年发病的成年型糖尿病 2 型(MODY2)是一种常染色体显性遗传疾病,由 GCK 基因突变引起。其特征是糖化血红蛋白(HbA1c)逐渐轻度升高,空腹血糖轻度升高。在这里,我们从一名五岁男孩中诱导生成了一个多能干细胞系 SDQLCHi063-A,该男孩患有 MODY2,携带 GCK 基因外显子 1 缺失(OMIM*138079)。该 iPSC 系携带原始基因突变,表达多能性标志物,具有正常核型,并在三个胚层中自发分化。