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

Autor: 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
Jazyk: angličtina
Rok vydání: 2018
Předmět:
Zdroj: Stem Cell Research, Vol 28, Iss , Pp 136-140 (2018)
Druh dokumentu: article
ISSN: 1873-5061
DOI: 10.1016/j.scr.2018.02.005
Popis: 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.
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