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

从携带 SNCA 基因杂合变异 p.A53T 的帕金森病患者体内生成诱导性多能干细胞系 (CSC-32)

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作者:Carla Azevedo, Margarita Chumarina, Evgenija Serafimova, Stefano Goldwurm, Anna Collin, Laurent Roybon, Ekaterina Savchenko, Yuriy Pomeshchik

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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