Generation of patient-specific induced pluripotent stem cells (KSCBi007-A) derived from a patient with Prader–Willi syndrome retain maternal uniparental disomy (UPD)

Bo-Young Kim; Jin-Sung Lee; Yong-Ou Kim; Mi-Hyun Park; Soo Kyung Koo

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Generation of patient-specific induced pluripotent stem cells (KSCBi007-A) derived from a patient with Prader–Willi syndrome retain maternal uniparental disomy (UPD)

机译：产生患者特异性诱导的多能干细胞（KSCBI007-A）衍生自Prader-Willi综合征的患者保留孕产妇发单人强性（UPD）

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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.

机译：PRADER-WILLI综合征（PWS）是一种神经开发障碍，其在15季度的印记区域的患者表达基因丧失引起的。我们建立了一种人诱导的多能干细胞（HIPSC）线KSCBI007-A，从一个5个月大女孩的外周血单核细胞，患有孕产妇发起天使（UPD）的PW。基因组DNA的甲基化特异性多重结扎依赖性探针扩增（MS-MLPA）揭示了HIPSC中的母体抑制。产生的HIPSC线表表达多能性标记，并显示出在体外分化为三种胚层的能力。这种HIPSC线可以用作人类印记障碍的蜂窝模型。

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《Stem cell research》 |2019年第2期|共页
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Bo-Young Kim; Jin-Sung Lee; Yong-Ou Kim; Mi-Hyun Park; Soo Kyung Koo;
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1. Uniparental disomy of the entire X chromosome in Turner syndrome patient-specific induced pluripotent stem cells [J] . Yumei Luo, Detu Zhu, Rong Du, Cell discovery. . 2015,第7期

机译：Turner综合征患者特异性诱导多能干细胞中整个X染色体的单亲二体性
2. Induced pluripotent stem cells (iPSC) created from skin fibroblasts of patients with Prader-Willi syndrome (PWS) retain the molecular signature of PWS - ScienceDirect [J] . Lisa C. Burnett, Charles A. LeDuc, Carlos R. Sulsona, Stem cell research . 2016,第3期

机译：由Prader-Willi综合征（PWS）患者的皮肤成纤维细胞产生的诱导多能干细胞（iPSC）保留了PWS的分子标记-ScienceDirect
3. Induced pluripotent stem cells (iPSC) created from skin fibroblasts of patients with Prader-Willi syndrome (PWS) retain the molecular signature of PWS - ScienceDirect [J] . Lisa C. Burnett, Charles A. LeDuc, Carlos R. Sulsona, Stem cell research . 2016,第3期

机译：由Prader-Willi综合征（PWS）患者的皮肤成纤维细胞产生的诱导多能干细胞（iPSC）保留了PWS的分子标记-ScienceDirect
4. Chapter 14 New Treatment Modalities by Disease-Specific and Patient-Specific Induced Pluripotent Stem Cells [C] . Sibel Yildirim International Stem Cell Meeting . 2012

机译：第14章疾病特异性和患者特异性诱导多能干细胞的新治疗方式
5. Modeling Rett syndrome with Patient-specific Induced Pluripotent Stem Cells. [D] . Cunningham Williams, Emily Suzannah. 2013

机译：用患者特异性诱导多能干细胞模拟Rett综合征。
6. Uniparental disomy of the entire X chromosome in Turner syndrome patient-specific induced pluripotent stem cells [O] . Yumei Luo, Detu Zhu, Rong Du, 2015

机译：Turner综合征患者特异性诱导多能干细胞中整个X染色体的单亲二体性
7. Uniparental disomy of the entire X chromosome in Turner syndrome patient-specific induced pluripotent stem cells [O] . Yumei Luo, Detu Zhu, Rong Du, 2015

机译：变型患者特异性患者特异性诱导多能干细胞的整个X染色体的发单安性

Generation of patient-specific induced pluripotent stem cells (KSCBi007-A) derived from a patient with Prader–Willi syndrome retain maternal uniparental disomy (UPD)

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