An induced pluripotent stem cell line (EHTJUi004-A) generated from a neonate with c.4683_4684delCT:p.Leu1563fs mutation in the gene DSP causing Familial Arrhythmogenic Right Ventricular Dysplasia (ARVD)
| Autor: | Ji-Zhen Lu, Shou-Mei Zhang, Lu Zhang, Zhong-Min Liu, Zhi-Hui Bai, Yi-Yao Qi, Hong-Xia Cao, Zhi-Bin Qiao, Wen-Wen Jia, Han-Yu Zhu |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Tachycardia Pathology medicine.medical_specialty QH301-705.5 Induced Pluripotent Stem Cells Biology medicine.disease_cause Ventricular tachycardia Umbilical cord Primary cardiomyopathy 03 medical and health sciences 0302 clinical medicine medicine Humans cardiovascular diseases Biology (General) Induced pluripotent stem cell Arrhythmogenic Right Ventricular Dysplasia Supraventricular arrhythmia Mutation Infant Newborn Arrhythmias Cardiac Cell Biology General Medicine medicine.disease Arrhythmogenic right ventricular dysplasia 030104 developmental biology medicine.anatomical_structure Tachycardia Ventricular cardiovascular system Female medicine.symptom 030217 neurology & neurosurgery Developmental Biology |
| Zdroj: | Stem Cell Research, Vol 53, Iss, Pp 102369-(2021) |
| ISSN: | 1873-5061 |
| Popis: | Familial Arrhythmogenic Right Ventricular Dysplasia (ARVD) is a primary cardiomyopathy characterized by the abnormality of the right ventricular muscle. ARVD may be life-threatening due to the induction of paroxysmal refractory ventricular tachycardia or supraventricular arrhythmia. A human induced pluripotent stem cell line (EHTJUi004-A) was generated from human umbilical cord blood mononuclear cells (UCBMCs) of a female neonate with heterozygous mutation of p.Leu1563fs (c.4683_4684delCT) in the DSP gene. This iPS cell line resource provides an ideal in vitro model to study the pathological mechanism of ARVD. |
| Databáze: | OpenAIRE |
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