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

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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Publication Details

Journal
Stem Cell Research
Published
2024-10-09
DOI
https://doi.org/10.1016/j.scr.2024.103578
Primary Topic
Pluripotent Stem Cells Research
Type
article
Field-Weighted Citation Impact
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article

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

Jingke Cheng, Xin Ren, Yingtong Zhai, Qian Ren et al.
Stem Cell Research
Pluripotent Stem Cells Research
article

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

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

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.

Stem Cell ResearchVol. 81
Hebei Medical University (CN), Second Hospital of Hebei Medical University (CN)
Openalex Percentile: Top 84%
Pluripotent Stem Cells Research
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Generation of an induced pluripotent stem cell line (HMSCATi004-A) from an early onset Parkinson’s disease patient with PRKN gene mutation — Jingke Cheng, Xin Ren, et al. · Stem Cell Research (2024) | TGRS Research Map | TGRS