title: Modelling human disease with pluripotent stem cells.
abstract: Recent progress in the field of cellular reprogramming has opened up the doors to a new era of disease modelling, as pluripotent stem cells representing a myriad of genetic diseases can now be produced from patient tissue. These cells can be expanded and differentiated to produce a potentially limitless supply of the affected cell type, which can then be used as a tool to improve understanding of disease mechanisms and test therapeutic interventions. This process requires high levels of scrutiny and validation at every stage, but international standards for the characterisation of pluripotent cells and their progeny have yet to be established. Here we discuss the current state of the art with regard to modelling diseases affecting the ectodermal, mesodermal and endodermal lineages, focussing on studies which have demonstrated a disease phenotype in the tissue of interest. We also discuss the utility of pluripotent cell technology for the modelling of cancer and infectious disease. Finally, we spell out the technical and scientific challenges which must be addressed if the field is to deliver on its potential and produce improved patient outcomes in the clinic.
authors: Stem Cell Epigenetics Laboratory, Institute of Basic Medical Sciences, Faculty of Medicine, University of Oslo. PO Box 1112. Blindern. 0317 Oslo. Norway.
authors: Richard
authors: R
authors: Siller
authors: Stem Cell Epigenetics Laboratory, Institute of Basic Medical Sciences, Faculty of Medicine, University of Oslo. PO Box 1112. Blindern. 0317 Oslo. Norway.
authors: Sebastian
authors: S
authors: Greenhough
authors: Department of Genetics, Yale Stem Cell Center, Yale School of Medicine, 10 Amistad, 201B, New Haven. CT. 06520. USA.
authors: In-Hyun
authors: IH
authors: Park
authors: Stem Cell Epigenetics Laboratory, Institute of Basic Medical Sciences, Faculty of Medicine, University of Oslo. PO Box 1112. Blindern. 0317 Oslo. Norway.|Norwegian Center for Stem Cell Research. PO Box 1112 Blindern. 0317 Oslo. Norway.
authors: Gareth J
authors: GJ
authors: Sullivan
mesh_terms: D002454:Cell Differentiation; D019070:Cell Lineage; D065150:Cellular Reprogramming / Q000235:genetics*; D053595:Embryonic Stem Cells / Q000166:cytology / Q000637:transplantation; D006801:Humans; D019636:Neurodegenerative Diseases / Q000628:therapy*; D039904:Pluripotent Stem Cells / Q000166:cytology* / Q000637:transplantation; D057170:Translational Research, Biomedical