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1.
Stem Cell Res ; 65: 102959, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-36332465

RESUMO

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).


Assuntos
Células-Tronco Pluripotentes Induzidas , Doença de Parkinson , Humanos , Masculino , Doença de Parkinson/genética , Leucócitos Mononucleares , Mutação/genética
2.
Stem Cell Res ; 65: 102948, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-36274270

RESUMO

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.


Assuntos
Glucosilceramidase , Células-Tronco Pluripotentes Induzidas , Doença de Parkinson , Humanos , Leucócitos Mononucleares , Mutação/genética , Doença de Parkinson/genética , Linhagem Celular , Glucosilceramidase/genética
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