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Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c.823C > T and EX6 del) in the PARK2 gene

Marote, Ana LU ; Pomeshchik, Yuriy LU ; Goldwurm, Stefano; Collin, Anna LU ; Lamas, Nuno J. LU ; Pinto, Luísa; Salgado, António J. and Roybon, Laurent LU (2018) In Stem Cell Research 27. p.90-94
Abstract

Mutations in the PARK2 gene, which encodes PARKIN, are the most frequent cause of autosomal recessive Parkinson's disease (PD). We report the generation of an induced pluripotent stem cell (iPSC) line from a 78-year-old patient carrying a compound heterozygous mutation (c.823C > T and EX6del) in the PARK2 gene. Skin fibroblasts were reprogrammed using the non-integrating Sendai virus technology to deliver OCT3/4, SOX2, c-MYC and KLF4 factors. The generated cell line CSC-44 exhibits expression of common pluripotency markers, in vitro differentiation into the three germ layers and normal karyotype. This iPSC line can be used to explore the association between PARK2 mutations and PD.

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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Stem Cell Research
volume
27
pages
5 pages
publisher
Elsevier
external identifiers
  • scopus:85041579696
ISSN
1873-5061
DOI
10.1016/j.scr.2018.01.006
language
English
LU publication?
yes
id
f68efd16-db93-4ce7-8436-06e01c0fa352
date added to LUP
2018-02-20 12:30:41
date last changed
2018-05-29 09:18:53
@article{f68efd16-db93-4ce7-8436-06e01c0fa352,
  abstract     = {<p>Mutations in the PARK2 gene, which encodes PARKIN, are the most frequent cause of autosomal recessive Parkinson's disease (PD). We report the generation of an induced pluripotent stem cell (iPSC) line from a 78-year-old patient carrying a compound heterozygous mutation (c.823C &gt; T and EX6del) in the PARK2 gene. Skin fibroblasts were reprogrammed using the non-integrating Sendai virus technology to deliver OCT3/4, SOX2, c-MYC and KLF4 factors. The generated cell line CSC-44 exhibits expression of common pluripotency markers, in vitro differentiation into the three germ layers and normal karyotype. This iPSC line can be used to explore the association between PARK2 mutations and PD.</p>},
  author       = {Marote, Ana and Pomeshchik, Yuriy and Goldwurm, Stefano and Collin, Anna and Lamas, Nuno J. and Pinto, Luísa and Salgado, António J. and Roybon, Laurent},
  issn         = {1873-5061},
  language     = {eng},
  month        = {03},
  pages        = {90--94},
  publisher    = {Elsevier},
  series       = {Stem Cell Research},
  title        = {Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c.823C > T and EX6 del) in the PARK2 gene},
  url          = {http://dx.doi.org/10.1016/j.scr.2018.01.006},
  volume       = {27},
  year         = {2018},
}