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

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 reprog...

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Veröffentlicht in:	Stem cell research 2023-04, Vol.68, p.103051-103051, Article 103051
Hauptverfasser:	Moon, Hye-Ji, Lee, Nayeon, Moon, Ji-Young, Lee, Jae-Hyeok, Kim, Jae-Ho
Format:	Artikel
Sprache:	eng
Schlagworte:	Cell Differentiation Cellular Reprogramming Female Humans Induced Pluripotent Stem Cells - metabolism Leukocytes, Mononuclear - metabolism Mutation - genetics Parkinson Disease - genetics Parkinson Disease - metabolism
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Zusammenfassung:	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).
ISSN:	1873-5061 1876-7753
DOI:	10.1016/j.scr.2023.103051