Generation of an induced pluripotent stem cell line (HMSCATi004-A) from an early onset Parkinson's disease patient with PRKN gene mutation

被引：0
|
作者：
Cheng, Jingke [1 ,2 ]
Zhai, Yingtong [1 ,2 ]
Guo, Xiangge [1 ,2 ]
Wang, Xumeng [1 ,2 ]
Ma, Min [1 ,6 ]
Ren, Xin [5 ]
Wang, Shan [5 ]
Cui, Huixian [1 ,2 ,3 ]
Ren, Qian [1 ,2 ,3 ,4 ]
机构：
[1] Hebei Med Univ, Dept Human Anat, Shijiazhuang, Peoples R China
[2] Hebei Med Univ, Int Cooperat Lab Stem Cell Res, Shijiazhuang, Peoples R China
[3] Hebei Med Univ, Hebei Key Lab Neurodegenerat Dis Mech, Shijiazhuang, Peoples R China
[4] Minist Educ, Key Lab Neural & Vasc Biol, Shijiazhuang, Peoples R China
[5] Hebei Med Univ, Dept Neurol, Hosp 2, Shijiazhuang, Peoples R China
[6] Hebei Med Univ, Human Brain Bank, Shijiazhuang, Peoples R China
来源：
STEM CELL RESEARCH | 2024年 / 81卷
关键词：
D O I：
10.1016/j.scr.2024.103578
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
Parkin (PRKN) is recognized as causative gene in early-onset Parkinson's disease (PD). Induced pluripotent stem cells (iPSCs) were derived from a 29-year-old PD patient carrying a heterozygous c.823C > T (p.R275W) variant and an exon 2-4 deletion in PRKN. The Generated iPSCs maintain a normal karyotype, express pluripotency markers, and retain the ability to differentiate into the three germ layers. This iPSC line serves as a valuable cellular model for investigating the pathogenesis of early-onset PD and development of potential therapeutic interventions.
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页数：5
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