Raul Delgado-Morales E ditor Stem Cell Genetics for Biomedical Research Past, Present, and Future Stem Cell Genetics for Biomedical Research Raul Delgado-Morales Editor Stem Cell Genetics for Biomedical Research Past, Present, and Future Editor Raul Delgado-Morales Duran i Reynals Hospital Bellvitge Biomedical Research Institute (IDIBELL) Barcelona, Spain ISBN 978-3-319-90694-2 ISBN 978-3-319-90695-9 (eBook) https://doi.org/10.1007/978-3-319-90695-9 Library of Congress Control Number: 2018945917 © Springer International Publishing AG, part of Springer Nature 2018 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. The publisher, the authors and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the editors give a warranty, express or implied, with respect to the material contained herein or for any errors or omissions that may have been made. The publisher remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Printed on acid-free paper This Springer imprint is published by the registered company Springer International Publishing AG part of Springer Nature. The registered company address is: Gewerbestrasse 11, 6330 Cham, Switzerland Contents Part I S tem Cells for Brain Disorders 1 Human-Induced Pluripotent Stem Cell-D erived Neurons to Model and Gain Insights into Alzheimer’s Disease Pathogenesis. . . . . . . . . . 3 Jessica E. Young and Raul Delgado-Morales 2 Modeling Schizophrenia with Human Stem Cells . . . . . . . . . . . . . . . . 13 Juliana Minardi Nascimento, Veronica M. Saia-Cereda, Giuliana S. Zuccoli, Danielle Gouvêa-Junqueira, and Daniel Martins-de-Souza 3 Rett Syndrome and Stem Cell Research . . . . . . . . . . . . . . . . . . . . . . . . 27 Keita Tsujimura and Kinichi Nakashima 4 Stem Cell Applications in Spinal Cord Injury: A Primer . . . . . . . . . . 43 James Hong, Christopher E. Rodgers, and Michael G. Fehlings 5 Cell-Based Therapy for Retinal Degenerative Disease . . . . . . . . . . . . 73 Marco A. Zarbin 6 Past, Present and Future of Cell-Based Therapy in Progressive Multiple Sclerosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 87 Giulio Volpe, Joshua D. Bernstock, Luca Peruzzotti-Jametti, and Stefano Pluchino Part II S tem Cells for Cardiovascular Diseases 7 Cardiac Stem Cells: A Plethora of Potential Therapies for Myocardial Regeneration Within Reach . . . . . . . . . . . . . . . . . . . . 135 Enrique Gallego-Colon and Eduardo Oliver v vi Contents 8 Human-Induced Pluripotent Stem Cell-D erived Cardiomyocytes in the Evaluation of Cardiotoxic Potential of Drugs . . . . . . . . . . . . . . 173 Yee Xiang Chang, and Christine L. Mummery Part III Stem Cells for General Medicine 9 Regenerative Medicine for Diabetes Treatment: New β-Cell Sources . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 197 Rosa Gasa and Meritxell Rovira 10 Dental Pulp Stem Cells Promote Wound Healing and Muscle Regeneration . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 221 E. Martínez-Sarrà, S. Montori, C. Gil-Recio, R. Núñez-Toldrà, N. Carrio Bertran, A. Al Madhoun, M. Sampaolesi, and M. Atari 11 From Bench to Bedside of Mesenchymal Stem Cells Use for Rheumatoid Arthritis Treatment . . . . . . . . . . . . . . . . . . . . . . . 241 R. A. Contreras, N. Luque, F. Djouad, Roberto Elizondo-Vega, and Patricia Luz-Crawford 12 Stem Cells and Cancer . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 271 Meredith Davis, Katja Gassner, Ruth Rodriguez-Barrueco, and David Llobet-Navas 13 The Relevance of Induced Pluripotent Stem Cells for the Study of Physiological and Premature Aging . . . . . . . . . . . . . . . . . . . . . . . . . 311 Dido Carrero and Carlos López-Otín Part IV Technical Challenges and Future 14 Pluripotent Stem Cell Banks . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 337 Begoña Aran, Ángel Raya, and Anna Veiga 15 Engineering of Human-Induced Pluripotent Stem Cells for Precise Disease Modeling . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 369 P. Lisowski Index . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 413 Contributors A. Al Madhoun Research Division, Dasman Diabetes Institute, Dasman, Kuwait Begoña Aran Center of Regenerative Medicine in Barcelona (CMRB), Barcelona, Spain National Stem Cell Bank-Barcelona Node, Biomolecular and Bioinformatics Resources Platform PRB2, ISCIII, CMRB, Barcelona, Spain M. Atari Regenerative Medicine Research Institute, Universitat Internacional de Catalunya, Barcelona, Spain Joshua D. Bernstock Department of Clinical Neurosciences and NIHR Biomedical Research Centre, University of Cambridge, Cambridge, UK Stroke Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NINDS/NIH), Bethesda, MD, USA N. Carrio Bertran Regenerative Medicine Research Institute, Universitat Inter- nacional de Catalunya, Barcelona, Spain Dido Carrero Departamento de Bioquímica y Biología Molecular, Facultad de Medicina, Instituto Universitario de Oncología (IUOPA), Universidad de Oviedo, Oviedo, Spain Yee Xiang Chang University of Utrecht, Utrecht, The Netherlands R. A. Contreras Laboratorio de Inmunología Celular y Molecular, Centro de Investigación Biomédica, Facultad de Medicina, Universidad de los Andes, Santiago, Chile Inserm, U 1183, Montpellier, France Meredith Davis Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK vii viii Contributors Raul Delgado-Morales Cancer Epigenetics and Biology Program (PEBC), Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, Barcelona, Catalonia, Spain Department of Psychiatry & Neuropsychology, School for Mental Health and Neuroscience (MHeNs), Maastricht University, Maastricht, The Netherlands F. Djouad Inserm, U 1183, Montpellier, France Université de Montpellier, Montpellier, France Roberto Elizondo-Vega Laboratorio de Inmunología Celular y Molecular, Centro de Investigación Biomédica, Facultad de Medicina, Universidad de los Andes, Santiago, Chile Michael G. Fehlings University of Toronto, Toronto, ON, Canada University Health Network, Toronto, ON, Canada Enrique Gallego-Colon Department of Biochemistry, Medical University of Silesia, School of Medicine in Katowice, Katowice, Poland Rosa Gasa Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Barcelona, Spain Diabetes and Obesity Research Laboratory, August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Barcelona, Spain Katja Gassner Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK Bellvitge Biomedical Research Institute (IDIBELL), Gran via de l’Hospitalet, L’Hospitalet de Llobregat, Spain C. Gil-Recio Regenerative Medicine Research Institute, Universitat Internacional de Catalunya, Barcelona, Spain Danielle Gouvêa-Junqueira Lab of Neuroproteomics, Department of Biochemistry and Tissue Biology, Institute of Biology, University of Campinas (UNICAMP), Campinas, Brazil James Hong University of Toronto & Krembil Research Institute, Toronto, ON, Canada P. Lisowski Department of Molecular Biology, Institute of Genetics and Animal Breeding, Polish Academy of Sciences, Jastrzebiec, Magdalenka, Poland Department of Medical Genetics, Centre for Preclinical Research and Technology (CePT), Warsaw Medical University, Warsaw, Poland Mitochondria and Cell Fate Reprogramming Group, Department of Proteomics and Molecular Mechanisms of Neurodegenerative Diseases, Max Delbrück Center for Molecular Medicine (MDC) in the Helmholtz Association, Berlin, Germany Contributors ix David Llobet-Navas Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK Bellvitge Biomedical Research Institute (IDIBELL), Gran via de l’Hospitalet, L’Hospitalet de Llobregat, Spain Carlos López-Otín Departamento de Bioquímica y Biología Molecular, Facultad de Medicina, Instituto Universitario de Oncología (IUOPA), Universidad de Oviedo, Oviedo, Spain Centro de Investigación en Red de Cáncer, Madrid, Spain N. Luque Laboratorio de Inmunología Celular y Molecular, Centro de Investigación Biomédica, Facultad de Medicina, Universidad de los Andes, Santiago, Chile Patricia Luz-Crawford Laboratorio de Inmunología Celular y Molecular, Centro de Investigación Biomédica, Facultad de Medicina, Universidad de los Andes, Santiago, Chile E. Martínez-Sarrà Regenerative Medicine Research Institute, Universitat Internacional de Catalunya, Barcelona, Spain Translational Cardiomyology Laboratory, Stem Cell Biology and Embryology Unit, Department of Development and Regeneration, Leuven, Belgium Daniel Martins-de-Souza Instituto Nacional de Biomarcadores em Neuropsiquiatria (INBION) Conselho Nacional de Desenvolvimento Cientifico e Tecnologico, São Paulo, Brazil UNICAMP’s Neurobiology Center, Campinas, Brazil Lab of Neuroproteomics, Department of Biochemistry and Tissue Biology, Institute of Biology, University of Campinas (UNICAMP), Campinas, Brazil S. Montori Regenerative Medicine Research Institute, Universitat Internacional de Catalunya, Barcelona, Spain Christine L. Mummery Department of Anatomy and Embryology, Leiden University Medical Centre, Leiden, The Netherlands Kinichi Nakashima Department of Stem Cell Biology and Medicine, Graduate School of Medical Sciences, Kyushu University, Higashi-ku, Fukuoka, Fukuoka, Japan Juliana Minardi Nascimento Lab of Neuroproteomics, Department of Biochemistry and Tissue Biology, Institute of Biology, University of Campinas (UNICAMP), Campinas, Brazil D’Or Institute for Research and Education (IDOR), Rio de Janeiro, Brazil R. Núñez-Toldrà Regenerative Medicine Research Institute, Universitat Internacional de Catalunya, Barcelona, Spain x Contributors Eduardo Oliver Centro Nacional de Investigaciones Cardiovasculares Carlos III (CNIC), Madrid, Spain Luca Peruzzotti-Jametti Department of Clinical Neurosciences and NIHR Biomedical Research Centre, University of Cambridge, Cambridge, UK Stefano Pluchino Department of Clinical Neurosciences and NIHR Biomedical Research Centre, University of Cambridge, Cambridge, UK Ángel Raya Institució Catalana de Recerca I Estudis Avançats (ICREA), Barcelona, Spain Center of Regenerative Medicine in Barcelona (CMRB), Barcelona, Spain Center for Networked Biomedical Research on Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), Madrid, Spain Christopher E. Rodgers University of Toronto & Krembil Research Institute, Toronto, ON, Canada Ruth Rodriguez-Barrueco Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK Bellvitge Biomedical Research Institute (IDIBELL), Gran via de l’Hospitalet, L’Hospitalet de Llobregat, Spain Universitat de Barcelona, Facultat de Medicina i Ciències de la Salut. Departament d’Anatomia i Terapèutica Experimental. Bellvitge Biomedical Research Institute (IDIBELL), Gran via de l’Hospitalet, L’Hospitalet de Llobregat, Spain Meritxell Rovira Center of Regenerative Medicine in Barcelona (CMRB), Hospital Duran i Reynals, Barcelona, Spain Veronica M. Saia-Cereda Lab of Neuroproteomics, Department of Biochemistry and Tissue Biology, Institute of Biology, University of Campinas (UNICAMP), Campinas, Brazil M. Sampaolesi Translational Cardiomyology Laboratory, Stem Cell Biology and Embryology Unit, Department of Development and Regeneration, Leuven, Belgium Human Anatomy Unit, Department of Public Health, Experimental and Forensic Medicine, University of Pavia, Pavia, Italy Keita Tsujimura Department of Psychiatry, Nagoya University Graduate School of Medicine, Showa, Nagoya, Aichi, Japan Institute for Advanced Research, Nagoya University, Chikusa, Nagoya, Aichi, Japan Department of Stem Cell Biology and Medicine, Graduate School of Medical Sciences, Kyushu University, Higashi-ku, Fukuoka, Fukuoka, Japan