Open access
Generation of 5 induced pluripotent stem cell lines with copy number variations in 22q11.2.
F. Radtke
F. Abbasov
A. Chiocchetti
D. Gücsavas
A. Jung
C. Kurth
R. McNeill
M. Nieberler
M. Romanos
Z. Schickardt
G. C. Ziegler
S. Kittel-Schneider
Medicine
Abstract
Copy number variations (deletions or duplications) in the 22q11.2 gene region are significantly correlated to a highly increased risk to develop mental disorder morbidity such as psychosis, attention-deficit/hyperactivity disorder (ADHD) or mood disorders. However, pathogenetic mechanisms are insufficiently understood. We generated iPSC from two deletion patients (one with major depressive disorder, one with specific phobia) and three duplication patients (one with recurrent major depressive disorder, one with ADHD, one with autistic traits). The iPSC lines represent a valuable resource to model pathogenesis in vitro.