携带LMNA移码突变的心房颤动患者iPSC系建立及鉴定
Generation of a human induced pluripotent stem cell line (JSPHi003-A) from a patient with atrial fibrillation and ventricular tachycardia carrying LMNA frame shift mutation (c.1304_1307dup)
Zhiqiao Lin, Hongyi Cheng, Yike Zhang, Bingyu Zheng, Feng Zhang, Yongping Lin, Yue Zhu, Weizhu Ju, Chang Cui, Minglong Chen
Journal：Stem Cell Research
IF：1.59
DOI：10.1016/j.scr.2022.102909
PMID：36095892
Published：2022-09-07
research field：力学生物学生物材料细胞生物学呼吸生物学结构生物学牙种植学组织工程
Abstract
The iPSC line was generated from the peripheral blood mononuclear cells (PBMCs) from a 53-year-old female patient carrying the LMNA gene mutation (c.1304_1307dup) diagnosed with atrial fibrillation and paroxysmal ventricular tachycardia. Through comprehensive detection, it was verified that the cell line had the LMNA gene mutation, normal karyotype, and the potential to differentiate into the three germ layers. This cell line may reveal potential therapeutic targets for atrial and ventricular arrhythmias caused by LMNA mutations.
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