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Author (up) Ananiev, G.; Williams, E.C.; Li, H.; Chang, Q. url  doi
  Title Isogenic pairs of wild type and mutant induced pluripotent stem cell (iPSC) lines from Rett syndrome patients as in vitro disease model Type Journal Article
  Year 2011 Publication PloS one Abbreviated Journal PLoS One  
  Volume 6 Issue 9 Pages e25255  
  Keywords Adult; Animals; Cell Differentiation/genetics/physiology; Cell Line; Child; Child, Preschool; Female; Humans; Induced Pluripotent Stem Cells/cytology/*metabolism; Male; Methyl-CpG-Binding Protein 2/*genetics; Mice; Mice, Inbred NOD; Mice, SCID; Neurons/cytology/metabolism; Rett Syndrome/*genetics; Teratoma/metabolism/pathology; X Chromosome Inactivation/genetics  
  Abstract Rett syndrome (RTT) is an autism spectrum developmental disorder caused by mutations in the X-linked methyl-CpG binding protein 2 (MECP2) gene. Excellent RTT mouse models have been created to study the disease mechanisms, leading to many important findings with potential therapeutic implications. These include the identification of many MeCP2 target genes, better understanding of the neurobiological consequences of the loss- or mis-function of MeCP2, and drug testing in RTT mice and clinical trials in human RTT patients. However, because of potential differences in the underlying biology between humans and common research animals, there is a need to establish cell culture-based human models for studying disease mechanisms to validate and expand the knowledge acquired in animal models. Taking advantage of the nonrandom pattern of X chromosome inactivation in female induced pluripotent stem cells (iPSC), we have generated isogenic pairs of wild type and mutant iPSC lines from several female RTT patients with common and rare RTT mutations. R294X (arginine 294 to stop codon) is a common mutation carried by 5-6% of RTT patients. iPSCs carrying the R294X mutation has not been studied. We differentiated three R294X iPSC lines and their isogenic wild type control iPSC into neurons with high efficiency and consistency, and observed characteristic RTT pathology in R294X neurons. These isogenic iPSC lines provide unique resources to the RTT research community for studying disease pathology, screening for novel drugs, and testing toxicology.  
  Address Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin, United States of America  
  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 1932-6203 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:21966470; PMCID:PMC3180386 Approved no  
  Call Number refbase @ user @ Serial 16967  
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