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Author (up) Yang, J.; Cai, J.; Zhang, Y.; Wang, X.; Li, W.; Xu, J.; Li, F.; Guo, X.; Deng, K.; Zhong, M.; Chen, Y.; Lai, L.; Pei, D.; Esteban, M.A. url  doi
  Title Induced pluripotent stem cells can be used to model the genomic imprinting disorder Prader-Willi syndrome Type Journal Article
  Year 2010 Publication The Journal of Biological Chemistry Abbreviated Journal J Biol Chem  
  Volume 285 Issue 51 Pages 40303-40311  
  Keywords Cell Dedifferentiation/genetics; Cells, Cultured; Chromosomes, Human, Pair 15/genetics/metabolism; Chromosomes, Human, Pair 4/genetics/metabolism; *DNA Methylation; *Genomic Imprinting; Humans; Induced Pluripotent Stem Cells/*metabolism/pathology; *Models, Biological; Prader-Willi Syndrome/genetics/*metabolism/pathology; RNA, Small Nuclear/biosynthesis/genetics; Translocation, Genetic/genetics  
  Abstract The recent discovery of induced pluripotent stem cell (iPSC) technology provides an invaluable tool for creating in vitro representations of human genetic conditions. This is particularly relevant for those diseases that lack adequate animal models or where the species comparison is difficult, e.g. imprinting diseases such as the neurogenetic disorder Prader-Willi syndrome (PWS). However, recent reports have unveiled transcriptional and functional differences between iPSCs and embryonic stem cells that in cases are attributable to imprinting errors. This has suggested that human iPSCs may not be useful to model genetic imprinting diseases. Here, we describe the generation of iPSCs from a patient with PWS bearing a partial translocation of the paternally expressed chromosome 15q11-q13 region to chromosome 4. The resulting iPSCs match all standard criteria of bona fide reprogramming and could be readily differentiated into tissues derived from the three germ layers, including neurons. Moreover, these iPSCs retain a high level of DNA methylation in the imprinting center of the maternal allele and show concomitant reduced expression of the disease-associated small nucleolar RNA HBII-85/SNORD116. These results indicate that iPSCs may be a useful tool to study PWS and perhaps other genetic imprinting diseases as well.  
  Address Key Laboratory of Regenerative Biology, South China Institute for Stem Cell Biology and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou 510530, China  
  Corporate Author Thesis  
  Publisher Place of Publication Editor  
  Language English Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 0021-9258 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:20956530; PMCID:PMC3001010 Approved no  
  Call Number refbase @ user @ Serial 17000  
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