作者
Wen Li, Xianming Wang, Wenxia Fan, Ping Zhao, Yau-Chi Chan, Shen Chen, Shiqiang Zhang, Xiangpeng Guo, Ya Zhang, Yanhua Li, Jinglei Cai, Dajiang Qin, Xingyan Li, Jiayin Yang, Tianran Peng, Daniela Zychlinski, Dirk Hoffmann, Ruosi Zhang, Kang Deng, Kwong-Man Ng, Bjorn Menten, Mei Zhong, Jiayan Wu, Zhiyuan Li, Yonglong Chen, Axel Schambach, Hung-Fat Tse, Duanqing Pei, Miguel A Esteban
发表日期
2012/1/1
期刊
Human molecular genetics
卷号
21
期号
1
页码范围
32-45
出版商
Oxford University Press
简介
Many human diseases share a developmental origin that manifests during childhood or maturity. Aneuploid syndromes are caused by supernumerary or reduced number of chromosomes and represent an extreme example of developmental disease, as they have devastating consequences before and after birth. Investigating how alterations in gene dosage drive these conditions is relevant because it might help treat some clinical aspects. It may also provide explanations as to how quantitative differences in gene expression determine phenotypic diversity and disease susceptibility among natural populations. Here, we aimed to produce induced pluripotent stem cell (iPSC) lines that can be used to improve our understanding of aneuploid syndromes. We have generated iPSCs from monosomy X [Turner syndrome (TS)], trisomy 8 (Warkany syndrome 2), trisomy 13 (Patau syndrome) and partial trisomy 11;22 …
引用总数
2012201320142015201620172018201920202021202220232024711106757652833
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