@article{ZieglerRadtkeVitaleetal.2021,
  author    = {Ziegler, Georg C. and Radtke, Franziska and Vitale, Maria Rosaria and Preuße, Andr{\´e} and Klopocki, Eva and Herms, Stefan and Lesch, Klaus-Peter},
  title     = {Generation of multiple human iPSC lines from peripheral blood mononuclear cells of two SLC2A3 deletion and two SLC2A3 duplication carriers},
  series = {Stem Cell Research},
  volume    = {56},
  journal   = {Stem Cell Research},
  doi       = {10.1016/j.scr.2021.102526},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-264696},
  year      = {2021},
  abstract  = {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.},
  language  = {en}
}
@article{VitaleZoellerJanschetal.2021,
  author    = {Vitale, Maria Rosaria and Z{\"o}ller, Johanna Eva Maria and Jansch, Charline and Janz, Anna and Edenhofer, Frank and Klopocki, Eva and van den Hove, Daniel and Vanmierlo, Tim and Rivero, Olga and Kasri, Nael Nadif and Ziegler, Georg Christoph and Lesch, Klaus-Peter},
  title     = {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},
  series = {Stem Cell Research},
  volume    = {51},
  journal   = {Stem Cell Research},
  doi       = {10.1016/j.scr.2021.102169},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-260331},
  year      = {2021},
  abstract  = {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.},
  language  = {en}
}
@article{JanzZinkCirnuetal.2021,
  author    = {Janz, Anna and Zink, Miriam and Cirnu, Alexandra and Hartleb, Annika and Albrecht, Christina and Rost, Simone and Klopocki, Eva and G{\"u}nther, Katharina and Edenhofer, Frank and Erg{\"u}n, S{\"u}leyman and Gerull, Brenda},
  title     = {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)},
  series = {Stem Cell Research},
  volume    = {53},
  journal   = {Stem Cell Research},
  doi       = {10.1016/j.scr.2021.102256},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-259846},
  pages     = {102256},
  year      = {2021},
  abstract  = {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.},
  language  = {en}
}