Generation of the human induced pluripotent stem cell line PUMCi005-A from a patient with Perrault syndrome

被引：0
|
作者：
Wang, Yi-bo [1 ]
Lv, Ya-feng [2 ]
Zhang, Ye [1 ]
Wang, Wei [3 ]
机构：
[1] Chinese Acad Med Sci & Peking Union Med Coll, Inst Basic Med Sci, Dept Biochem & Mol Biol, Beijing 100005, Peoples R China
[2] China Three Gorges Univ, Med Coll, Hubei Key Lab Tumor Microenvironm & Immunotherapy, Yichang 443002, Hubei, Peoples R China
[3] China Japan Friendship Hosp, Dept Neurol, Beijing 100029, Peoples R China
来源：
STEM CELL RESEARCH | 2024年 / 75卷
关键词：
D O I：
10.1016/j.scr.2024.103318
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
We generated PUMCi005-A, an induced pluripotent stem cell (iPSC) line, from dermal fibroblasts of a 32-year-old female Perrault syndrome patient with double heterozygous (794 G > A and 1181 G > A) mutations in the TWNK gene using Sendai viral delivery of OCT4, SOX2, KLF4, and c-MYC. The PUMCi005-A iPSC line carried the TWNK mutations, displayed typical iPSC morphology, expressed pluripotent stem cell markers, did not have integration of Sendai virus, and exhibited a normal karyotype and differentiation into three germ layers.
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