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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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. |
Year of Publication | :
2018
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Journal | :
Stem cell research
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Volume | :
27
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Number of Pages | :
61-64
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Date Published | :
2018
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ISSN Number | :
1873-5061
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URL | :
http://linkinghub.elsevier.com/retrieve/pii/S1873-5061(18)30001-1
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DOI | :
10.1016/j.scr.2018.01.001
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Short Title | :
Stem Cell Res
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