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学科主题临床医学
Cure of ADPKD by Selection for Spontaneous Genetic Repair Events in Pkd1-Mutated iPS Cells
Cheng, Li-Tao1,2; Nagata, Shogo1,3; Hirano, Kunio1; Yamaguchi, Shinpei1,3; Horie, Shigeo4; Ainscough, Justin5; Tada, Takashi1,3
刊名PLOS ONE
2012-02-09
DOI10.1371/journal.pone.0032018
7期:2
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Multidisciplinary Sciences
资助者Japan Society for the Promotion of Science ; Ministry of Education, Culture, Sports, Science and Technology ; Core Research for Evolutional Science and Technology (Japan Science and Technology Agency) ; Takeda Science foundation ; Takeda Science Foundation, JAPAN ; Japan Society for the Promotion of Science ; Ministry of Education, Culture, Sports, Science and Technology ; Core Research for Evolutional Science and Technology (Japan Science and Technology Agency) ; Takeda Science foundation ; Takeda Science Foundation, JAPAN
研究领域[WOS]Science & Technology - Other Topics
关键词[WOS]PLURIPOTENT STEM-CELLS ; POLYCYSTIC KIDNEY-DISEASE ; GENERATION ; FIBROBLASTS ; MUTATIONS ; NUCLEASES
英文摘要

Induced pluripotent stem cells (iPSCs) generated by epigenetic reprogramming of personal somatic cells have limited therapeutic capacity for patients suffering from genetic disorders. Here we demonstrate restoration of a genomic mutation heterozygous for Pkd1 (polycystic kidney disease 1) deletion (Pkd1(+/-) to Pkd1(+/R+)) by spontaneous mitotic recombination. Notably, recombination between homologous chromosomes occurred at a frequency of 1 similar to 2 per 10,000 iPSCs. Southern blot hybridization and genomic PCR analyses demonstrated that the genotype of the mutation-restored iPSCs was indistinguishable from that of the wild-type cells. Importantly, the frequency of cyst generation in kidneys of adult chimeric mice containing Pkd1(+/R+) iPSCs was significantly lower than that of adult chimeric mice with parental Pkd1(+/-) iPSCs, and indistinguishable from that of wild-type mice. This repair step could be directly incorporated into iPSC development programmes prior to cell transplantation, offering an invaluable step forward for patients carrying a wide range of genetic disorders.

语种英语
资助者Japan Society for the Promotion of Science ; Ministry of Education, Culture, Sports, Science and Technology ; Core Research for Evolutional Science and Technology (Japan Science and Technology Agency) ; Takeda Science foundation ; Takeda Science Foundation, JAPAN ; Japan Society for the Promotion of Science ; Ministry of Education, Culture, Sports, Science and Technology ; Core Research for Evolutional Science and Technology (Japan Science and Technology Agency) ; Takeda Science foundation ; Takeda Science Foundation, JAPAN
WOS记录号WOS:000302730200039
引用统计
被引频次:9[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/54920
专题北京大学第三临床医学院_肾内科
作者单位1.JST CREST, Kawaguchi, Saitama, Japan
2.Teikyo Univ, Dept Urol, Tokyo 173, Japan
3.Univ Leeds, LIGHT, Leeds, W Yorkshire, England
4.Kyoto Univ, Inst Frontier Med Sci, Kyoto, Japan
5.Peking Univ, Hosp 3, Dept Nephrol, Beijing 100871, Peoples R China
推荐引用方式
GB/T 7714
Cheng, Li-Tao,Nagata, Shogo,Hirano, Kunio,et al. Cure of ADPKD by Selection for Spontaneous Genetic Repair Events in Pkd1-Mutated iPS Cells[J]. PLOS ONE,2012,7(2).
APA Cheng, Li-Tao.,Nagata, Shogo.,Hirano, Kunio.,Yamaguchi, Shinpei.,Horie, Shigeo.,...&Tada, Takashi.(2012).Cure of ADPKD by Selection for Spontaneous Genetic Repair Events in Pkd1-Mutated iPS Cells.PLOS ONE,7(2).
MLA Cheng, Li-Tao,et al."Cure of ADPKD by Selection for Spontaneous Genetic Repair Events in Pkd1-Mutated iPS Cells".PLOS ONE 7.2(2012).
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