Fibroblasts were isolated from a skin biopsy of a clinically diagnosed 51-year-old female attention-deficit/hyperactivity disorder (ADHD) patient carrying a duplication of SLC2A3, a gene encoding neuronal glucose transporter-3 (GLUT3). Patient fibroblasts were infected with Sendai virus, a single-stranded RNA virus, to generate transgene-free human induced pluripotent stem cells (iPSCs). SLC2A3-D2-iPSCs showed expression of pluripotency-associated markers, were able to differentiate into cells of the three germ layers in vitro and had a normal female karyotype. This in vitro cellular model can be used to study the role of risk genes in the pathogenesis of ADHD, in a patient-specific manner.
Title: Generation of a human induced pluripotent stem cell (iPSC) line from a 51-year-old female with attention-deficit/hyperactivity disorder (ADHD) carrying a duplication of SLC2A3
Authors: Charline Jansch, Katharina Günther, Jonas Waider, Georg C Ziegler, Andrea Forero, Sina Kollert, Evgeniy Svirin, Dirk Pühringer, Chee Keong Kwok, Reinhard Ullmann, Anna Maierhofer, Julia Flunkert, Thomas Haaf, Frank Edenhofer, Klaus-Peter Lesch