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.
Autor: | Azevedo C; Stem Cell Laboratory for CNS Disease Modeling, Department of Experimental Medical Science, BMC D10, Lund University, Lund, Sweden., Chumarina M; Stem Cell Laboratory for CNS Disease Modeling, Department of Experimental Medical Science, BMC D10, Lund University, Lund, Sweden., Serafimova E; Stem Cell Laboratory for CNS Disease Modeling, Department of Experimental Medical Science, BMC D10, Lund University, Lund, Sweden., Goldwurm S; Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy., Collin A; Department of Clinical Genetics and Pathology, Office for Medical Services, Division of Laboratory Medicine, Lund, Sweden., Roybon L; Stem Cell Laboratory for CNS Disease Modeling, Department of Experimental Medical Science, BMC D10, Lund University, Lund, Sweden. Electronic address: laurent.roybon@med.lu.se., Savchenko E; Stem Cell Laboratory for CNS Disease Modeling, Department of Experimental Medical Science, BMC D10, Lund University, Lund, Sweden., Pomeshchik Y; Stem Cell Laboratory for CNS Disease Modeling, Department of Experimental Medical Science, BMC D10, Lund University, Lund, Sweden. |
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Jazyk: | angličtina |
Zdroj: | Stem cell research [Stem Cell Res] 2020 Mar; Vol. 43, pp. 101694. Date of Electronic Publication: 2020 Jan 11. |
DOI: | 10.1016/j.scr.2019.101694 |
Abstrakt: | 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. Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. (Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.) |
Databáze: | MEDLINE |
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