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


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. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Moon HJ, Lee N, Moon JY, Park KK, Lee JH, Kim JH
Journal Stem cell research
Publication Date 2022 Oct 17;65:102948
PubMed 36274270
DOI 10.1016/j.scr.2022.102948

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