Heterozygous LMNA mutation-carrying iPSC lines from three cardiac laminopathy patients.
Heterozygous LMNA mutation-carrying iPSC lines from three cardiac laminopathy patients.
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DOI：
10.1016/j.scr.2022.102657
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发表时间：
2022-03
影响因子：
1.2
通讯作者：
Wu, Joseph C.
中科院分区：
文献类型：
--
作者：
Cho, Sangkyun;Lee, Chelsea;Lai, Celine;Zhuge, Yan;Haddad, Francois;Fowler, Michael;Sallam, Karim;Wu, Joseph C.
LMNA相关扩张型心肌病（LMNA-DCM）是由LMNA基因的致病性变异引起的，其特征是左心室腔扩大、收缩功能降低和心律失常。在这里，我们从三个DCM患者的外周血单核细胞（PBMC）产生了三个人诱导多能干细胞（iPSC）系，所述DCM患者在LMNA中携带相同的单个杂合突变c.398 G > A。所有细胞系均表现出正常的iPSC形态，表达高水平的多能性标志物，显示出正常的核型，并且可以分化成三个胚层。这些患者特异性iPSC系可以作为建立LMNA-DCM体外病理机制模型的宝贵工具。
LMNA-related dilated cardiomyopathy (LMNA-DCM) is caused by pathogenic variants in the LMNA gene and is characterized by left ventricular chamber enlargement, reduced systolic function, and arrhythmia. Here, we generated three human induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells (PBMCs) of three DCM patients carrying the same single heterozygous mutation, c.398 G > A, in LMNA. All lines exhibited normal iPSC morphology, expressed high levels of pluripotency markers, showed normal karyotypes, and could differentiate into the three germ layers. These patient-specific iPSC lines can serve as invaluable tools to model in vitro pathological mechanisms of LMNA-DCM.
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影响因子：
24
作者：
Gigli, Marta;Merlo, Marco;Mestroni, Luisa
通讯作者：
Mestroni, Luisa
影响因子：
17.1
作者：
Sayed N;Liu C;Ameen M;Himmati F;Zhang JZ;Khanamiri S;Moonen JR;Wnorowski A;Cheng L;Rhee JW;Gaddam S;Wang KC;Sallam K;Boyd JH;Woo YJ;Rabinovitch M;Wu JC
通讯作者：
Wu JC
影响因子：
11.8
作者：
Cho, Sangkyun;Vashisth, Manasvita;Discher, Dennis E.
通讯作者：
Discher, Dennis E.
影响因子：
64.8
作者：
Lee, Jaecheol;Termglinchan, Vittavat;Wu, Joseph C.
通讯作者：
Wu, Joseph C.