cells Article A Novel Chromosomal Translocation Identified due to Complex Genetic Instability in iPSC Generated for Choroideremia 1,2 3, 1,2, 3 Nejla Erkilic , Vincent Gatinois y , Simona Torriano y, Pauline Bouret , Carla Sanjurjo-Soriano 1,2, Valerie De Luca 1,2, Krishna Damodar 1,2, Nicolas Cereso 1,2, Jacques Puechberty 4, Rocio Sanchez-Alcudia 5,6, Christian P. Hamel 1,2,7, Carmen Ayuso 5,6, 1,2,7 3, 1,2, , Isabelle Meunier , Franck Pellestor z and Vasiliki Kalatzis * z 1 Inserm U1051, Institute for Neurosciences of Montpellier, 34091 Montpellier, France 2 University of Montpellier, 34095 Montpellier, France 3 Chromosomal Genetics Unit, Chromostem Platform, CHU, 34090 Montpellier, France 4 Service of Clinical Genetics, Department of Medical Genetics, Rare Diseases and Personalized Medicine, CHU, 34090 Montpellier, France 5 Department of Genetics, Institute for Sanitary Investigation, Foundation Jimenez Diaz, 28040 Madrid, Spain 6 Centre for Biomedical Network Research on Rare Diseases (CIBERER), 28029 Madrid, Spain 7 National Reference Centre for Inherited Sensory Diseases, CHU, 34295 Montpellier, France * Correspondence:
[email protected]; Tel.: +33-(0)4-99-63-6076; Fax: +33-(0)4-99-63-6020 These authors contributed equally to this work. y These authors contributed equally to this work. z Received: 13 August 2019; Accepted: 7 September 2019; Published: 11 September 2019 Abstract: Induced pluripotent stem cells (iPSCs) have revolutionized the study of human diseases as they can renew indefinitely, undergo multi-lineage differentiation, and generate disease-specific models. However, the difficulty of working with iPSCs is that they are prone to genetic instability. Furthermore, genetically unstable iPSCs are often discarded, as they can have unforeseen consequences on pathophysiological or therapeutic read-outs.