Generation of three induced pluripotent stem cell lines, SCVIi003-A, SCVIi004-A, SCVIi005-A, from patients with ARVD/C caused by heterozygous mutations in the PKP2 gene.
Generation of three induced pluripotent stem cell lines, SCVIi003-A, SCVIi004-A, SCVIi005-A, from patients with ARVD/C caused by heterozygous mutations in the PKP2 gene.
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DOI：
10.1016/j.scr.2021.102284
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发表时间：
2021-05
影响因子：
1.2
通讯作者：
Wu JC
中科院分区：
文献类型：
--
作者：
Jahng JWS;Black KE;Liu L;Bae HR;Perez M;Ashley EA;Sallam K;Wu JC
致心律失常性右心室发育不良/心肌病（ARVD/C）是一种遗传性心脏病，可引起危及生命的室性心律失常和心功能障碍。ARVD/C的常染色体显性形式是由心脏桥粒突变引起的，例如斑珠蛋白斑嗜蛋白-2（PKP 2）基因突变。在这里，我们从三个ARVD/C患者的外周血单核细胞（PBMC）中产生了三个人诱导多能干细胞（iPSC）系，这些患者在其PKP 2基因中具有致病性变体（c.2065_2070delinsG; c.235C>T; c.1725_1728dup）。所有细胞系均显示多能干细胞的典型形态，证明多能标记物的高表达，显示正常核型，并在体外分化成所有三个胚层。这些细胞系为研究PKP 2突变导致ARVD/C的病理机制提供了宝贵的资源。
Arrhythmogenie right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited heart disease which can cause life-threatening ventricular arrhythmias and cardiac dysfunction. The autosomal dominant form of ARVD/C is caused by mutations in the cardiac desmosome, such as those in the plakoglobin plakophilin-2 (PKP2) gene. Here, we generated three human induced pluripotent stem cell (iPSC) lines from the peripheral blood mononuclear cells (PBMCs) of three ARVD/C patients eanying pathogenic variants in their PKP2 genes (c.2065_2070delinsG; c.235C>T; c.1725_1728dup). All lines show the typical morphology of pluripotent stem cells, demonstrate high expression of pluripotent markers, display normal karyotype, and differentiate into all three germ layers in vitro. These lines are valuable resources for studying the pathological mechanisms of ARVD/C caused by PKP2 mutation.
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影响因子：
17.1
作者：
Asimaki A;Kapoor S;Plovie E;Karin Arndt A;Adams E;Liu Z;James CA;Judge DP;Calkins H;Churko J;Wu JC;MacRae CA;Kléber AG;Saffitz JE
通讯作者：
Saffitz JE
影响因子：
37.8
作者：
Kitani, Tomoya;Ong, Sang-Ging;Wu, Joseph C.
通讯作者：
Wu, Joseph C.
影响因子：
8.8
作者：
Rhee JW;Yi H;Thomas D;Lam CK;Belbachir N;Tian L;Qin X;Malisa J;Lau E;Paik DT;Kim Y;Choi BS;Sayed N;Sallam K;Liao R;Wu JC
通讯作者：
Wu JC
DOI：
10.1007/s11936-013-0251-8
发表时间：
2013-08-01
影响因子：
--
作者：
James, Cynthia A;Calkins, Hugh
通讯作者：
Calkins, Hugh