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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.
Stem Cell Research ( IF 1.2 ) Pub Date : 2020-01-11 , DOI: 10.1016/j.scr.2019.101694
Carla Azevedo 1 , Margarita Chumarina 1 , Evgenija Serafimova 1 , Stefano Goldwurm 2 , Anna Collin 3 , Laurent Roybon 1 , Ekaterina Savchenko 1 , Yuriy Pomeshchik 1
Affiliation  

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.



中文翻译:

从帕金森氏病患者的SNCA基因中携带杂合变异p.A53T的患者诱导多能干细胞系(CSC-32)的生成。

在这里,我们描述了从诊断为帕金森氏病(PD)的男性患者中诱导多能干细胞(iPSC)系的生成。该患者在SNCA基因中携带杂合变异p.A53T。使用非整合型仙台病毒技术对皮肤成纤维细胞进行重编程,以递送OCT3 / 4,SOX2,c-MYC和KLF4因子。生成的iPSC品系(CSC-32)保留了突变,显示了通用多能性标记的表达,分化为三个胚层的衍生物,并表现出正常的核型。此后出现克隆CSC-32B。它可用于研究PD发病机理的机制。

更新日期:2020-01-11
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