从携带 PKD1 点突变的常染色体显性多囊肾病患者中生成人诱导多能干细胞系（MUi026-A）。
Generation of human induced pluripotent stem cell line (MUi026-A) from a patient with autosomal dominant polycystic kidney disease carrying PKD1 point mutation.
机构信息
Molecular Medicine Program, Multidisciplinary Unit, Faculty of Science, Mahidol University, Bangkok 10400, Thailand.
Stem Cell Research Group, Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom 73170, Thailand.
出版信息
Stem Cell Res. 2021 May;53:102306. doi: 10.1016/j.scr.2021.102306. Epub 2021 Mar 22.
Autosomal dominant polycystic kidney disease (ADPKD) is one of the common genetic kidney disorders that are caused by mutations in PKD1 or PKD2 gene. In this report, the MUi026-A human induced pluripotent stem cell (hiPSC) line was established from the skin fibroblasts of a female ADPKD patient who had the PKD1 mutation with c.5878C > T. The iPSC line retained normal karyotype. The cells displayed embryonic stem cell-like characteristics with pluripotency marker expression and were able to differentiate into three germ layers.
常染色体显性多囊肾病（ADPKD）是一种常见的遗传性肾脏疾病，由 PKD1 或 PKD2 基因突变引起。本研究中，我们从一位 PKD1 基因突变 c.5878C > T 的女性 ADPKD 患者的皮肤成纤维细胞中建立了 MUi026-A 人诱导多能干细胞（hiPSC）系。该 iPSC 系保持正常核型。细胞显示出胚胎干细胞样特征，具有多能性标志物表达，并能分化为三个胚层。
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