Generation of Parkinson's disease patient-derived human induced pluripotent stem cells line (PNUSCRi001-A) carrying a N227S mutation in GBA gene

Nayeon Lee; Hye-Ji Moon; So-Hyun Park; Ji-Young Moon; Ka-Kyung Park; Jae-Ho Kim; Jae-Hyeok Lee

doi:10.1016/j.scr.2022.102959

Generation of Parkinson's disease patient-derived human induced pluripotent stem cells line (PNUSCRi001-A) carrying a N227S mutation in GBA gene

Stem Cell Res. 2022 Dec:65:102959. doi: 10.1016/j.scr.2022.102959. Epub 2022 Oct 31.

Authors

Nayeon Lee¹, Hye-Ji Moon¹, So-Hyun Park², Ji-Young Moon¹, Ka-Kyung Park¹, Jae-Ho Kim¹, Jae-Hyeok Lee³

Affiliations

¹ Convergence Stem Cell Research Center, Medical Research Institute, Pusan National University School of Medicine, Yangsan, Gyeongsangnam-do, Republic of Korea; Department of Physiology, Pusan National University School of Medicine, Yangsan, Gyeongsangnam-do, Republic of Korea.
² Department of Neurology, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, Gyeongsangnam-do, Republic of Korea.
³ Department of Neurology, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, Gyeongsangnam-do, Republic of Korea. Electronic address: jhlee.neuro@pusan.ac.kr.

PMID: 36332465
DOI: 10.1016/j.scr.2022.102959

Abstract

The hiPSC line was generated from peripheral blood mononuclear cells (PBMCs) collected by a male patient with young onset Parkinson's disease, carrying on heterozygous c.680 A > G (N227S) mutation in the GBA gene. The PBMCs was reprogrammed into an induced pluripotent stem cell (iPSC) line (PNUSCRi001-A hiPSCs) using non-integrative sendai virus. The hiPSC line, PNUSCRi001-A displayed a normal karyotype and the Expression of pluripotency markers that is capable of producing derivatives of three germ layers (Ectoderm, Endoderm and Mesoderm).

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Humans
Induced Pluripotent Stem Cells*
Leukocytes, Mononuclear
Male
Mutation / genetics
Parkinson Disease* / genetics