title: The generation of induced pluripotent stem cells from a patient with KCNH2 G603D, without LQT2 disease associated symptom.
abstract: The long QT syndrome type 2 (LQT2) is inheritable life threatening arrhythmic disorder and one of the most common genetic variants in long QT syndrome. There are some indications for treatment of the patients with LQT2 but it is impossible to completely prevent fatal arrhythmia. To develop novel therapy for the patients with LQT2, it has been desired to generate diseasespecific and patient-specific disease model. Human induced pluripotent stem (iPS) cells are somatic cell-derived pluripotent stem cells with infinite proliferation ability and multipotency. Patient-specific iPS cells can be derived from patient somatic cells, have all genomic information encoded in patient's genome including mutation and all SNPs, and can be ideal disease models of the patients. To generate disease model for LQT2 by iPS cells, we should firstly generate iPS cells from the patient with LQT2 and confirm the genomic mutation in iPS cells. In this study, we showed the successful generation of iPS cells from a patient with KCNH2 G603D mutation. The patient specific iPS cells properly expressed stem cell markers, such as NANOG and OCT3/4. We also confirmed that the KCNH2 G603D (G1808A) mutation was taken over in patient specific iPS cells. These patient-specific iPS cells may contribute to the future analysis for disease pathogenesis and drug innovation.
authors.affiliation: Department of Cardiology, Keio University School of Medicine, Japan.
authors.forename: Shinichiro
authors.initials: S
authors.lastname: Okata
authors.forename: Shinsuke
authors.initials: S
authors.lastname: Yuasa
authors.forename: Teiichi
authors.initials: T
authors.lastname: Yamane
authors.forename: Tetsushi
authors.initials: T
authors.lastname: Furukawa
authors.forename: Keiichi
authors.initials: K
authors.lastname: Fukuda
mesh_terms: D000225:Adenine; D001224:Aspartic Acid / Q000235:genetics*; D018929:Cell Culture Techniques; D002648:Child; D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels / Q000235:genetics*; D015894:Genome, Human / Q000235:genetics; D005998:Glycine / Q000235:genetics*; D006147:Guanine; D018398:Homeodomain Proteins; D006801:Humans; D008133:Long QT Syndrome / Q000235:genetics* / Q000473:pathology; D008297:Male; D000071317:Nanog Homeobox Protein; D050814:Octamer Transcription Factor-3 / Q000235:genetics; D039904:Pluripotent Stem Cells / Q000145:classification*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; D018398:Homeodomain Proteins; C000606913:KCNH2 protein, human; C486780:NANOG protein, human; D000071317:Nanog Homeobox Protein; D050814:Octamer Transcription Factor-3; C494173:POU5F1 protein, human; D001224:Aspartic Acid; D006147:Guanine; D000225:Adenine; D005998:Glycine