Generation of an induced pluripotent stem cell line (HMSCATi004-A) from an early onset Parkinson’s disease patient with PRKN gene mutation
Year: 2024
Type: article
Abstract: 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.
Source: Stem Cell Research
Authors: Jingke Cheng, Yingtong Zhai, Xiangge Guo, Xumeng Wang, Min Ma, Xin Ren, Shan Wang, Huixian Cui, Qian Ren
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,320
OpenAlex ID: W4403265435