Work

Human induced pluripotent stem cells line (PNUSCRi002-A) from a patient with Parkinson’s disease carrying a R159W mutation in the GBA gene

Year: 2022

Type: article

Abstract: Mutation in the glucocerebrosidase encoding gene 1 (GBA) is one of the most frequent causes of Parkinson's disease (PD). Herein, we obtained peripheral blood mononuclear cells (PBMCs) from a patient with PD with a heterozygous c.475C > T (p.R159W) mutation in the GBA gene, and generated an induced pluripotent stem cell (iPSC) line (GBA PD9 or PNUSCRi002-A hiPSCs) using a non-integrative Sendai virus. The iPSC line expressed pluripotency markers (OCT4, NANOG, SSEA-4, TRA-1-60) and displayed differentiation properties in the three germ layers (ectoderm, endoderm, and mesoderm). Additionally, the patient had a normal karyotype.

Source: Stem Cell Research

DOI: 10.1016/j.scr.2022.102948

Authors: Hye-Ji Moon, Nayeon Lee, Ji-Young Moon, Ka-Kyung Park, Jae-Hyeok Lee, Jae-Ho Kim

Institutions: Pusan National University, Pusan National University Yangsan Hospital

Language: English

Topic: Pluripotent Stem Cells Research

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,100