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

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

doi:10.1016/j.scr.2018.02.005

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

Stem Cell Res. 2018 Apr:28:136-140. doi: 10.1016/j.scr.2018.02.005. Epub 2018 Feb 13.

Authors

Affiliations

¹ Division of Molecular Psychiatry, Center of Mental Health, University of Würzburg, Würzburg, Germany.
² Stem Cell and Regenerative Medicine Group, Institute of Anatomy and Cell Biology II, University of Würzburg, Würzburg, Germany.
³ Institute of Physiology, Molecular Electrophysiology, University of of Würzburg, Würzburg, Germany.
⁴ Division of Molecular Psychiatry, Center of Mental Health, University of Würzburg, Würzburg, Germany; Laboratory of Psychiatric Neurobiology, Institute of Molecular Medicine, Sechenov First Moscow State Medical University, Moscow, Russia.
⁵ Bundeswehr Institute of Radiobiology Affiliated to the University of Ulm, Munich, Germany.
⁶ Institute of Human Genetics, University of Würzburg, Würzburg, Germany.
⁷ Stem Cell and Regenerative Medicine Group, Institute of Anatomy and Cell Biology II, University of Würzburg, Würzburg, Germany; Department of Genomics, Stem Cell Biology and Regenerative Medicine, Institute of Molecular Biology, CMBI, Leopold-Franzens-University Innsbruck, Innsbruck, Austria. Electronic address: Frank.Edenhofer@uibk.ac.at.
⁸ Division of Molecular Psychiatry, Center of Mental Health, University of Würzburg, Würzburg, Germany; Laboratory of Psychiatric Neurobiology, Institute of Molecular Medicine, Sechenov First Moscow State Medical University, Moscow, Russia; Department of Translational Neuroscience, School for Mental Health and Neuroscience (MHeNS), Maastricht University, Maastricht, The Netherlands. Electronic address: kplesch@mail.uni-wuerzburg.de.

PMID: 29477591
DOI: 10.1016/j.scr.2018.02.005

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Attention Deficit Disorder with Hyperactivity / genetics*
Attention Deficit Disorder with Hyperactivity / pathology*
Cell Culture Techniques / methods*
Cell Differentiation
Cell Line
Cellular Reprogramming
Female
Fibroblasts / metabolism
Fibroblasts / pathology
Gene Duplication*
Germ Layers / cytology
Glucose Transporter Type 3 / genetics*
Humans
Induced Pluripotent Stem Cells / cytology*
Microsatellite Repeats / genetics
Middle Aged
Mycoplasma / isolation & purification

Substances

Glucose Transporter Type 3
SLC2A3 protein, human