Prader–Willi syndrome (PWS) is a neurodevelopmental disorder caused by loss of paternally expressed genes in an imprinted region of 15q11.2–q13. We established a human-induced pluripotent stem cell (hiPSC) line, KSCBi007-A, from the peripheral blood mononuclear cells of a 5-month-old girl with PWS that retained maternal uniparental disomy (UPD). Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) of genomic DNA revealed the maternal UPD in the hiPSCs. The generated hiPSC line expressed pluripotency markers and showed the ability to differentiate into three germ layers in vitro. This hiPSC line could be used as a cellular model of an imprinting disorder in humans.

普拉德-威利综合症（PWS）是一种神经发育障碍，由在15q11.2-q13的印迹区域中父本表达的基因缺失引起。我们从5个月大的PWS女孩的外周血单核细胞中建立了人诱导的多能干细胞（hiPSC）系KSCBi007-A，该细胞保留了母体单亲二体性（UPD）。基因组DNA的甲基化特异性多重连接依赖探针扩增（MS-MLPA）显示了hiPSC中的母体UPD。产生的hiPSC品系表达多能性标记，并显示出体外分化为三个胚层的能力。该hiPSC系可以用作人类印迹疾病的细胞模型。