Generation of a human induced pluripotent stem cell line (CSC-40) from a Parkinson's disease patient with a PINK1 p.Q456X mutation

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Bibtex

@article{10cc33c82da74426bf044671ea399422,
title = "Generation of a human induced pluripotent stem cell line (CSC-40) from a Parkinson's disease patient with a PINK1 p.Q456X mutation",
abstract = "Parkinson's disease (PD) is a neurodegenerative disease with unknown etiology. Here we show the generation of an induced pluripotent stem cell (iPSC) line, named CSC-40, from dermal fibroblasts obtained from a 59-year-old male patient with a homozygous p.Q456X mutation in the PTEN-induced putative kinase 1 (PINK/PARK6) gene and a confirmed diagnosis of PD, which could be used to model familial PD. A non-integrating Sendai virus-based delivery of the reprogramming factors OCT3/4, SOX2, c-MYC and KLF4 was employed. The CSC-40 cell line showed normal karyotyping and fingerprinting following transduction as well as sustained expression of several pluripotency markers and the ability to differentiate into all three germ layers.",
author = "Kaspar Russ and Ana Marote and Ekaterina Savchenko and Anna Collin and Stefano Goldwurm and Yuriy Pomeshchik and Laurent Roybon",
year = "2018",
month = "3",
day = "1",
doi = "10.1016/j.scr.2018.01.001",
language = "English",
volume = "27",
pages = "61--64",
journal = "Stem Cell Research",
issn = "1876-7753",
publisher = "Elsevier",

}