Characterization of human induced pluripotent stem cells line (PNUSCRi004-A) from a Parkinson's disease patient carrying L483P, A495P and V499V mutations

Hye-Ji Moon; Nayeon Lee; Ji-Young Moon; Jae-Hyeok Lee; Jae-Ho Kim

doi:10.1016/j.scr.2023.103051

Characterization of human induced pluripotent stem cells line (PNUSCRi004-A) from a Parkinson's disease patient carrying L483P, A495P and V499V mutations

Stem Cell Res. 2023 Apr:68:103051. doi: 10.1016/j.scr.2023.103051. Epub 2023 Feb 14.

Authors

Hye-Ji Moon¹, Nayeon Lee¹, Ji-Young Moon¹, Jae-Hyeok Lee², Jae-Ho Kim³

Affiliations

¹ Convergence Stem Cell Research Center, Medical Research Institute, Yangsan, Gyeongsangnam-do, Republic of Korea.; Department of Physiology, School of Medicine, 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 Convergence Stem Cell Research Center, Medical Research Institute, Yangsan, Gyeongsangnam-do, Republic of Korea.; Department of Physiology, School of Medicine, Pusan National University School of Medicine, Yangsan, Gyeongsangnam-do, Republic of Korea. Electronic address: jhkimst@pusan.ac.kr.

PMID: 36805467
DOI: 10.1016/j.scr.2023.103051

Abstract

The hiPSC line was generated from peripheral blood mononuclear cells (PBMCs) collected from a female patient with young onset Parkinson's disease (PD), carrying on heterozygous c.1448 T > C (L483P), c1483 G > C (A495P) and c.1497 G > C (V499V) mutations in the GBA gene. The PBMCs was reprogrammed into an induced pluripotent stem cell (iPSC) line (GBA PD8 or PNUSCRi004-A hiPSCs) using non-integrative Sendai virus. The cell line, PNUSCRi004-A displayed a normal karyotype and expression of pluripotency markers capable of producing derivatives of three germ layers (Ectoderm, Endoderm and Mesoderm).

Publication types

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

MeSH terms

Cell Differentiation
Cellular Reprogramming
Female
Humans
Induced Pluripotent Stem Cells* / metabolism
Leukocytes, Mononuclear / metabolism
Mutation / genetics
Parkinson Disease* / genetics
Parkinson Disease* / metabolism