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Induced pluripotent stem cell line (LCSBi001-A) derived from a patient with Parkinson's disease carrying the p.D620N mutation in VPS35.
Stem Cell Research ( IF 0.8 ) Pub Date : 2020-04-04 , DOI: 10.1016/j.scr.2020.101776
Simone B Larsen 1 , Zoé Hanss 1 , Gérald Cruciani 1 , François Massart 1 , Peter A Barbuti 2 , George Mellick 3 , Rejko Krüger 4
Affiliation  

Fibroblasts were obtained from a 76 year-old man diagnosed with Parkinson's disease (PD). The disease is caused by a heterozygous p.D620N mutation in VPS35. Induced pluripotent stem cells (iPSCs) were generated using the CytoTune™-iPS 2.0 Sendai Reprogramming Kit (Thermo Fisher Scientific). The presence of the c.1858G > A base exchange in exon 15 of VPS35 was confirmed by Sanger sequencing. The iPSCs are free of genomically integrated reprogramming genes, express pluripotency markers, display in vitro differentiation potential to the three germ layers and have karyotypic integrity. Our iPSC line will be useful for studying the impact of the p.D620N mutation in VPS35 in vitro.



中文翻译:

派生自帕金森病患者的多能干细胞系(LCSBi001-A),在VPS35中带有p.D620N突变。

成纤维细胞来自一名诊断为帕金森氏病(PD)的76岁男性。该病是由VPS35中的p.D620N杂合突变引起的。使用CytoTune™-iPS 2.0仙台重编程试剂盒(赛默飞世尔科技)生成诱导性多能干细胞(iPSC)。的c.1858G>的存在 中的外显子15个碱基交换VPS35物通过Sanger测序证实。iPSC不含基因组整合的重编程基因,可表达多能性标记,对三个细菌层显示体外分化潜能,并具有核型完整性。我们的iPSC系列将有助于研究p.D620N突变对VPS35的影响。

更新日期:2020-04-04
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