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从一位携带 GCK 外显子 1 缺失的年轻 2 型成人发病型糖尿病患者外周血单个核细胞中诱导生成并鉴定多能干细胞(iPSC)系 SDQLCHi063-A。

Generation and characterization of an induced pluripotent stem cell (iPSC) line SDQLCHi063-A from peripheral blood mononuclear cells of a patient with Maturity-onset diabetes of the young type 2 carrying GCK exon 1 deletion.

机构信息

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.

出版信息

Stem Cell Res. 2024 Jun;77:103389. doi: 10.1016/j.scr.2024.103389. Epub 2024 Mar 13.

Abstract

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.

摘要

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。

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