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

Russ, Kaspar LU ; Marote, Ana LU ; Savchenko, Ekaterina LU ; Collin, Anna LU ; Goldwurm, Stefano ; Pomeshchik, Yuriy LU orcid and Roybon, Laurent LU (2018) In Stem Cell Research 27. p.61-64
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.

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author
; ; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Stem Cell Research
volume
27
pages
4 pages
publisher
Elsevier
external identifiers
  • pmid:29331938
  • scopus:85040218467
ISSN
1873-5061
DOI
10.1016/j.scr.2018.01.001
language
English
LU publication?
yes
id
10cc33c8-2da7-4426-bf04-4671ea399422
date added to LUP
2018-01-17 09:08:06
date last changed
2024-01-14 13:20:03
@article{10cc33c8-2da7-4426-bf04-4671ea399422,
  abstract     = {{<p>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.</p>}},
  author       = {{Russ, Kaspar and Marote, Ana and Savchenko, Ekaterina and Collin, Anna and Goldwurm, Stefano and Pomeshchik, Yuriy and Roybon, Laurent}},
  issn         = {{1873-5061}},
  language     = {{eng}},
  month        = {{03}},
  pages        = {{61--64}},
  publisher    = {{Elsevier}},
  series       = {{Stem Cell Research}},
  title        = {{Generation of a human induced pluripotent stem cell line (CSC-40) from a Parkinson's disease patient with a PINK1 p.Q456X mutation}},
  url          = {{http://dx.doi.org/10.1016/j.scr.2018.01.001}},
  doi          = {{10.1016/j.scr.2018.01.001}},
  volume       = {{27}},
  year         = {{2018}},
}