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Generation of an induced pluripotent stem cell line (CSC-32) from a patient with Parkinson's disease carrying a heterozygous variation p.A53T in the SNCA gene

Azevedo, Carla LU ; Chumarina, Margarita LU ; Serafimova, Evgenija LU ; Goldwurm, Stefano ; Collin, Anna LU ; Roybon, Laurent LU ; Savchenko, Ekaterina LU and Pomeshchik, Yuriy LU (2020) In Stem Cell Research 43.
Abstract

Here, we describe the generation of an induced pluripotent stem cell (iPSC) line, from a male patient diagnosed with Parkinson's disease (PD). The patient carries a heterozygous variation p.A53T in the SNCA gene. Skin fibroblasts were reprogrammed using the non-integrating Sendai virus technology to deliver OCT3/4, SOX2, c-MYC and KLF4 factors. The generated iPSC line (CSC-32) preserved the mutation, displayed expression of common pluripotency markers, differentiated into derivatives of the three germ layers, and exhibited a normal karyotype. The clone CSC-32B is presented thereafter; it can be used to study the mechanisms underlying PD pathogenesis.

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author
; ; ; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Stem Cell Research
volume
43
article number
101694
publisher
Elsevier
external identifiers
  • scopus:85077915033
  • pmid:31954327
ISSN
1873-5061
DOI
10.1016/j.scr.2019.101694
language
English
LU publication?
yes
id
70ca534e-e8db-4b5f-a5db-4c49676738ed
date added to LUP
2020-01-30 17:37:43
date last changed
2021-04-06 04:09:58
@article{70ca534e-e8db-4b5f-a5db-4c49676738ed,
  abstract     = {<p>Here, we describe the generation of an induced pluripotent stem cell (iPSC) line, from a male patient diagnosed with Parkinson's disease (PD). The patient carries a heterozygous variation p.A53T in the SNCA gene. Skin fibroblasts were reprogrammed using the non-integrating Sendai virus technology to deliver OCT3/4, SOX2, c-MYC and KLF4 factors. The generated iPSC line (CSC-32) preserved the mutation, displayed expression of common pluripotency markers, differentiated into derivatives of the three germ layers, and exhibited a normal karyotype. The clone CSC-32B is presented thereafter; it can be used to study the mechanisms underlying PD pathogenesis.</p>},
  author       = {Azevedo, Carla and Chumarina, Margarita and Serafimova, Evgenija and Goldwurm, Stefano and Collin, Anna and Roybon, Laurent and Savchenko, Ekaterina and Pomeshchik, Yuriy},
  issn         = {1873-5061},
  language     = {eng},
  publisher    = {Elsevier},
  series       = {Stem Cell Research},
  title        = {Generation of an induced pluripotent stem cell line (CSC-32) from a patient with Parkinson's disease carrying a heterozygous variation p.A53T in the SNCA gene},
  url          = {http://dx.doi.org/10.1016/j.scr.2019.101694},
  doi          = {10.1016/j.scr.2019.101694},
  volume       = {43},
  year         = {2020},
}