ArticleBiology open2015
Urine-derived induced pluripotent stem cells as a modeling tool for paroxysmal kinesigenic dyskinesia.
Article in Biology open, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 27 citations in OpenAlex.
- Application prospects of urine-derived stem cells in neurological and musculoskeletal diseases.World journal of orthopedics · 2024Review
- Exploiting urine-derived induced pluripotent stem cells for advancing precision medicine in cell therapy, disease modeling, and drug testing.Journal of biomedical science · 2024Review
- Efficient generation of human induced pluripotent stem cells from urine samples of patients with Fragile X syndrome.Frontiers in cell and developmental biology · 2024Article
- Role of connexin 32 in the directional differentiation of induced pluripotent stem cells into hepatocytes.International journal of medical sciences · 2024Article
- Urine-derived cells from the aged donor for the 2D/3D modeling of neural cells via iPSCs.Aging brain · 2023Article
- Urine-Derived Stem Cells for Epithelial Tissues Reconstruction and Wound Healing.Pharmaceutics · 2022Review
- Generation of An Induced Pluripotent Stem Cell Line from Human Liver Fibroblasts from A Patient with Combined Hepatocellular-Cholangiocarcinoma.Cell journal · 2022Article
- Urine-derived induced pluripotent/neural stem cells for modeling neurological diseases.Cell & bioscience · 2021Review
- Article
- A novel protocol for isolation and culture of multipotent progenitor cells from human urine.Journal of orthopaedic translation · 2019Article
- Urinary Stem Cells as Tools to Study Genetic Disease: Overview of the Literature.Journal of clinical medicine · 2019Review
- [The application of urine derived stem cells in regeneration of musculoskeletal system].Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgery · 2018Review
- PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity.Brain : a journal of neurology · 2018Article
- Generation of Retinal Organoids with Mature Rods and Cones from Urine-Derived Human Induced Pluripotent Stem Cells.Stem cells international · 2018Article
- Derivation and Identification of Motor Neurons from Human Urine-Derived Induced Pluripotent Stem Cells.Stem cells international · 2018Article
- Modeling the differential phenotypes of spinal muscular atrophy with high-yield generation of motor neurons from human induced pluripotent stem cells.Oncotarget · 2017Article
- Urine-Derived Stem Cells: The Present and the Future.Stem cells international · 2017Review
- Urine-derived induced pluripotent stem cells as a modeling tool to study rare human diseases.Intractable & rare diseases research · 2016Review
- Functional Neurons Generated from T Cell-Derived Induced Pluripotent Stem Cells for Neurological Disease Modeling.Stem cell reports · 2016Article
Corrections and comments
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Authors and funding
6 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Paroxysmal kinesigenic dyskinesia (PKD) is a monogenic movement disorder with autosomal dominant inheritance. We previously identified the proline-rich transmembrane protein 2 (PRRT2) as a causative gene of PKD. However, the pathogenesis of PKD remains largely unknown so far. In addition, applicable modeling tools to investigate the underlying mechanisms of PKD are still lacking. The combination of disease-specific human induced pluripotent stem cells (iPSCs) and directed cell differentiation offers an ideal platform for disease modeling. In this study, we generated two iPSC lines from the renal epithelial cells of one PKD patient with the hotspot c.649dupC mutation (PKD-iPSCs). These cell lines were positive for alkaline phosphatase Nanog, Tra-1-80, Tra-1-60, SSEA-3 and SSEA-4. Teratomas with three blastoderms including ectoderm, mesoderm, and endoderm were obtained two months after injection of PKD-iPSCs into NOD/SCID mice. The expression of PRRT2 mRNA was decreased in PKD-iPSCs compared with that of the control iPSCs. Furthermore, PKD-iPSCs possessed the differentiation potential of functional glutamatergic, dopaminergic and motor neurons in vitro. Electrophysiological examinations revealed that the current densities of fast activated and deactivated sodium channels as well as voltage gated potassium channels were not different between the neurons from PKD-iPSCs and control iPSCs. Thus, PKD-iPSCs are a feasible modeling tool to investigate the pathogenic mechanisms of PKD.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.