TY  - JOUR
A1  - Ziegler, Georg C.
A1  - Radtke, Franziska
A1  - Vitale, Maria Rosaria
A1  - Preuße, André
A1  - Klopocki, Eva
A1  - Herms, Stefan
A1  - Lesch, Klaus-Peter
T1  - Generation of multiple human iPSC lines from peripheral blood mononuclear cells of two SLC2A3 deletion and two SLC2A3 duplication carriers
JF  - Stem Cell Research
N2  - Copy number variants of SLC2A3, which encodes the glucose transporter GLUT3, are associated with several neuropsychiatric and cardiac diseases. Here, we report the successful reprogramming of peripheral blood mononuclear cells from two SLC2A3 duplication and two SLC2A3 deletion carriers and subsequent generation of two transgene-free iPSC clones per donor by Sendai viral transduction. All eight clones represent bona fide hiPSCs with high expression of pluripotency genes, ability to differentiate into cells of all three germ layers and normal karyotype. The generated cell lines will be helpful to enlighten the role of glucometabolic alterations in pathophysiological processes shared across organ boundaries.
KW  - congenital heart-deffects
KW  - transporter gene SLC2A3
KW  - copy-number variation
Y1  - 2021
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-264696
VL  - 56
ER  - 
TY  - JOUR
A1  - Vitale, Maria Rosaria
A1  - Zöller, Johanna Eva Maria
A1  - Jansch, Charline
A1  - Janz, Anna
A1  - Edenhofer, Frank
A1  - Klopocki, Eva
A1  - van den Hove, Daniel
A1  - Vanmierlo, Tim
A1  - Rivero, Olga
A1  - Kasri, Nael Nadif
A1  - Ziegler, Georg Christoph
A1  - Lesch, Klaus-Peter
T1  - Generation of induced pluripotent stem cell (iPSC) lines carrying a heterozygous (UKWMPi002-A-1) and null mutant knockout (UKWMPi002-A-2) of Cadherin 13 associated with neurodevelopmental disorders using CRISPR/Cas9
JF  - Stem Cell Research
N2  - Fibroblasts isolated from a skin biopsy of a healthy 46-year-old female were infected with Sendai virus containing the Yamanaka factors to produce transgene-free human induced pluripotent stem cells (iPSCs). CRISPR/Cas9 was used to generate isogenic cell lines with a gene dose-dependent deficiency of CDH13, a risk gene associated with neurodevelopmental and psychiatric disorders. Thereby, a heterozygous CDH13 knockout (CDH13\(^{+/-}\)) and a CDH13 null mutant (CDH13\(^{-/-}\)) iPSC line was obtained. All three lines showed expression of pluripotency-associated markers, the ability to differentiate into cells of the three germ layers in vitro, and a normal female karyotype.
KW  - CRISPR-Cas Systems
KW  - cadherins
KW  - female
KW  - heterozygote
KW  - humans
KW  - Induced Pluripotent Stem Cells
KW  - middle aged
KW  - neurodevelopmental disorders / genetics
Y1  - 2021
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-260331
VL  - 51
ER  - 
TY  - JOUR
A1  - Jansch, Charline
A1  - Günther, Katharina
A1  - Waider, Jonas
A1  - Ziegler, Georg C.
A1  - Forero, Andrea
A1  - Kollert, Sina
A1  - Svirin, Evgeniy
A1  - Pühringer, Dirk
A1  - Kwok, Chee Keong
A1  - Ullmann, Reinhard
A1  - Maierhofer, Anna
A1  - Flunkert, Julia
A1  - Haaf, Thomas
A1  - Edenhofer, Frank
A1  - Lesch, Klaus-Peter
T1  - 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
JF  - Stem Cell Research
N2  - 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.
KW  - ADHD
KW  - SLC2A3
KW  - induced pluripotent stem cells
Y1  - 2018
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-176654
VL  - 28
ER  -