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  - 
TY  - JOUR
A1  - Janz, Anna
A1  - Zink, Miriam
A1  - Cirnu, Alexandra
A1  - Hartleb, Annika
A1  - Albrecht, Christina
A1  - Rost, Simone
A1  - Klopocki, Eva
A1  - Günther, Katharina
A1  - Edenhofer, Frank
A1  - Ergün, Süleyman
A1  - Gerull, Brenda
T1  - CRISPR/Cas9-edited PKP2 knock-out (JMUi001-A-2) and DSG2 knock-out (JMUi001-A-3) iPSC lines as an isogenic human model system for arrhythmogenic cardiomyopathy (ACM)
JF  - Stem Cell Research
N2  - Arrhythmogenic cardiomyopathy (ACM) is characterized by fibro-fatty replacement of the myocardium, heart failure and life-threatening ventricular arrhythmias. Causal mutations were identified in genes encoding for proteins of the desmosomes, predominantly plakophilin-2 (PKP2) and desmoglein-2 (DSG2). We generated gene-edited knock-out iPSC lines for PKP2 (JMUi001-A-2) and DSG2 (JMUi001-A-3) using the CRISPR/Cas9 system in a healthy control iPSC background (JMUi001A). Stem cell-like morphology, robust expression of pluripotency markers, embryoid body formation and normal karyotypes confirmed the generation of high quality iPSCs to provide a novel isogenic human in vitro model system mimicking ACM when differentiated into cardiomyocytes.
KW  - mutations
Y1  - 2021
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-259846
VL  - 53
ER  -