Generation of a human induced pluripotent stem cell line from a female patient carrying LZTR1 gene mutation

被引：0
|
作者：
Ruan, Jinghua [1 ,2 ]
Wu, Mengqing [3 ]
Xiang, Jiakai [1 ]
Hui, Xianrui [2 ]
Yang, Lijun [1 ]
Lin, Ru [1 ,2 ]
Xu, Weize [1 ,2 ,3 ]
Shu, Qiang [1 ,2 ,4 ]
机构：
[1] Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Cardiac Surg,Sch Med, Hangzhou, Zhejiang, Peoples R China
[2] Zhejiang Univ, Binjiang Inst, Hangzhou, Zhejiang, Peoples R China
[3] Hangzhou Med Coll, Sch Basic Med Sci & Forens Med, Hangzhou, Zhejiang, Peoples R China
[4] Univ Toronto, Dept Mol Genet, Toronto, ON, Canada
来源：
STEM CELL RESEARCH | 2024年 / 81卷
基金：
中国国家自然科学基金;
关键词：
D O I：
10.1016/j.scr.2024.103616
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
The leucine zipper-like transcriptional regulator 1 ( LZTR1 ) gene has been reported to be associated with many kinds of human diseases, including cardiac disease, Noonan syndrome, and schwannomatosis. In this study, peripheral blood mononuclear cells (PBMCs) derived from patient diagnosed with dilated cardiomyopathy (DCM) was successfully reprogrammed into the human induced pluripotent stem cells (iPSCs) line, harboring a distinct heterozygous mutation in the LZTR1 gene. The established patient-derived iPSCs expressed endogenous pluripotent markers, demonstrated the potential to differentiate into three germ layers (endoderm, mesoderm, and ectoderm), and exhibited a normal karyotype.
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页数：4
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