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

作者信息

Cheng Jingke, Zhai Yingtong, Guo Xiangge, Wang Xumeng, Ma Min, Ren Xin, Wang Shan, Cui Huixian, Ren Qian

机构信息

Department of Human Anatomy, Hebei Medical University, Shijiazhuang, China; International Cooperation Laboratory of Stem Cell Research, Hebei Medical University, Shijiazhuang, China.

Department of Human Anatomy, Hebei Medical University, Shijiazhuang, China; Human Brain Bank, Hebei Medical University, Shijiazhuang, China.

出版信息

Stem Cell Res. 2024 Dec;81:103578. doi: 10.1016/j.scr.2024.103578. Epub 2024 Oct 9.

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.