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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
- Source :
- Stem Cell Research, Vol 43, Iss, Pp-(2020)
- Publication Year :
- 2020
- Publisher :
- Elsevier BV, 2020.
-
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.
- Subjects :
- Male
0301 basic medicine
Heterozygote
Parkinson's disease
Induced Pluripotent Stem Cells
Clone (cell biology)
Biology
medicine.disease_cause
Pathogenesis
Kruppel-Like Factor 4
03 medical and health sciences
0302 clinical medicine
SOX2
medicine
Humans
Induced pluripotent stem cell
lcsh:QH301-705.5
Cells, Cultured
Mutation
Cell Differentiation
Parkinson Disease
Cell Biology
General Medicine
Middle Aged
medicine.disease
biology.organism_classification
Sendai virus
030104 developmental biology
lcsh:Biology (General)
KLF4
alpha-Synuclein
Cancer research
030217 neurology & neurosurgery
Developmental Biology
Subjects
Details
- ISSN :
- 18735061
- Volume :
- 43
- Database :
- OpenAIRE
- Journal :
- Stem Cell Research
- Accession number :
- edsair.doi.dedup.....9e66dc89aa6542e0d213c95fd1a04569
- Full Text :
- https://doi.org/10.1016/j.scr.2019.101694