Generation of two heterozygous MYBPC3 mutation-carrying human iPSC lines, SCVIi001-A and SCVIi002-A, for modeling hypertrophic cardiomyopathy.
Generation of two heterozygous MYBPC3 mutation-carrying human iPSC lines, SCVIi001-A and SCVIi002-A, for modeling hypertrophic cardiomyopathy.
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DOI：
10.1016/j.scr.2021.102279
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发表时间：
2021-05
影响因子：
1.2
通讯作者：
Wu, Joseph C.
中科院分区：
文献类型：
--
作者：
Liu, Lichao;Shenoy, Sushma P.;Jahng, James W. S.;Liu, Yu;Knowles, Joshua W.;Zhuge, Yan;Wu, Joseph C.
肥厚型心肌病（HCM）是一种遗传性心脏病，可导致心脏性猝死和心力衰竭。HCM通常由肌节基因突变引起，其中MYBPC 3是最常见的突变。在这里，我们产生了两个人诱导多能干细胞（iPSC）线从HCM患者谁具有家族史的HCM和他的女儿谁携带致病性非编码突变。所有细胞系均显示多能细胞的典型形态、多能性标志物的高表达、正常核型和体外分化成所有三个胚层的能力。这些细胞系为研究HCM的分子基础和HCM的药物筛选提供了宝贵的资源。
Hypertrophic cardiomyopathy (HCM) is an inherited heart disease that can cause sudden cardiac death and heart failure. HCM often arises from mutations in sarcomeric genes, among which the MYBPC3 is the most frequently mutated. Here we generated two human induced pluripotent stem cell (iPSC) lines from a HCM patient who has a familial history of HCM and his daughter who carries the pathogenic non-coding mutation. All lines show the typical morphology of pluripotent cells, a high expression of pluripotency markers, normal karyotype, and in vitro capacity to differentiate into all three germ layers. These lines provide a valuable resource for studying the molecular basis of HCM and drug screening for HCM.
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影响因子：
158.5
作者：
Morita, Hiroyuki;Rehm, Heidi L.;Seidman, Christine E.
通讯作者：
Seidman, Christine E.
影响因子：
39.3
作者：
Wu, Haodi;Yang, Huaxiao;Wu, Joseph C.
通讯作者：
Wu, Joseph C.
影响因子：
20.1
作者：
Marian AJ;Braunwald E
通讯作者：
Braunwald E
影响因子：
37.8
作者：
Seeger, Timon;Shrestha, Rajani;Wu, Joseph C.
通讯作者：
Wu, Joseph C.