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).
Subject(s)
Induced Pluripotent Stem Cells , Parkinson Disease , Humans , Male , Parkinson Disease/genetics , Leukocytes, Mononuclear , Mutation/geneticsABSTRACT
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.
