源自普拉德-威利综合征患者的患者特异性诱导多能干细胞（KSCBi007-A）的产生保留了母源单亲二体性（UPD）。
Generation of patient-specific induced pluripotent stem cells (KSCBi007-A) derived from a patient with Prader-Willi syndrome retain maternal uniparental disomy (UPD).
作者信息
Kim Bo-Young, Lee Jin-Sung, Kim Yong-Ou, Park Mi-Hyun, Koo Soo Kyung
机构信息
Division of Intractable Diseases, National Center for Stem Cell and Regenerative Medicine, Center for Biomedical Sciences, Korea National Institute of Health, Korea Centers for Disease Control and Prevention Cheongju-si, South Korea.
Division of Clinical Genetics, Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine, South Korea.
出版信息
Stem Cell Res. 2019 Dec;41:101647. doi: 10.1016/j.scr.2019.101647. Epub 2019 Nov 2.
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-威利综合征（PWS）是一种神经发育障碍，由15q11.2-q13印记区域中父源表达基因的缺失引起。我们从一名患有PWS的5个月大女孩的外周血单个核细胞中建立了人诱导多能干细胞（hiPSC）系KSCBi007-A，该女孩保留了母源单亲二体性（UPD）。对基因组DNA进行甲基化特异性多重连接依赖探针扩增（MS-MLPA），结果显示hiPSC中存在母源UPD。所产生的hiPSC系表达多能性标志物，并在体外表现出分化为三个胚层的能力。该hiPSC系可作为人类印记障碍的细胞模型。
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