bioRxivCell BiologyPreprint
Generation of an induced pluripotent stem cell line, LCSBi021-A, from a Parkinson's disease patient harboring the missense mutation c.213C>G (p.Ser71Arg) in the RAB32 gene
Ioanna BoumpourekaiD, Vyron A. GorgogietasiD, Elizabet PetkovskiiD, Rashi HalderiD, François MassartiD, Rejko KrügeriD
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Abstract
Dermal fibroblasts were obtained from a 40-year-old male patient with Parkinson's disease (PD), harboring the c.213C>G (p.Ser71Arg) variant in the RAB32 gene. Induced pluripotent stem cells (iPSCs) were generated using the CytoTune-iPS 2.0 Sendai Reprogramming Kit (Thermo Fisher Scientific). The presence of the c.213C>G base exchange in exon 1 of RAB32 was confirmed by Next Generation Sequencing. The iPSCs are free of genomically integrated reprogramming genes, express pluripotency markers, display in vitro differentiation potential into all three germ layers and exhibit karyotypic integrity. Our iPSC line is available for research purposes to dissect molecular mechanisms of neurodegeneration in PD.
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