SCIENTIFIC LITERATURE · MED

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 C, Chumarina M, Serafimova E, Goldwurm S, Collin A, Roybon L, Savchenko E, Pomeshchik Y.

Stem Cell Res · 2020-01-11

DOI: 10.1016/j.scr.2019.101694PMID: 31954327

Check source for accessResearch Support, Non-U.S. Gov't; Journal Article; Case ReportsOriginal source ↗

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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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