从一名携带PINK1 p.Q456X突变的帕金森病患者中生成人诱导多能干细胞系（CSC-40）。
Generation of a human induced pluripotent stem cell line (CSC-40) from a Parkinson's disease patient with a PINK1 p.Q456X mutation.
作者信息
Russ Kaspar, Marote Ana, Savchenko Ekaterina, Collin Anna, Goldwurm Stefano, Pomeshchik Yuriy, Roybon Laurent
机构信息
Stem Cell Laboratory for CNS Disease Modeling, Wallenberg Neuroscience Center, Department of Experimental Medical Science, BMC A10, Lund University, Lund, Sweden; Strategic Research Area MultiPark, Lund University, Lund, Sweden; Lund Stem Cell Center, Lund University, Lund, Sweden.
Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, Portugal; ICVS/3B's, PT Government Associate Laboratory, Braga, Guimarães, Portugal.
出版信息
Stem Cell Res. 2018 Mar;27:61-64. doi: 10.1016/j.scr.2018.01.001. Epub 2018 Jan 4.
Parkinson's disease (PD) is a neurodegenerative disease with unknown etiology. Here we show the generation of an induced pluripotent stem cell (iPSC) line, named CSC-40, from dermal fibroblasts obtained from a 59-year-old male patient with a homozygous p.Q456X mutation in the PTEN-induced putative kinase 1 (PINK/PARK6) gene and a confirmed diagnosis of PD, which could be used to model familial PD. A non-integrating Sendai virus-based delivery of the reprogramming factors OCT3/4, SOX2, c-MYC and KLF4 was employed. The CSC-40 cell line showed normal karyotyping and fingerprinting following transduction as well as sustained expression of several pluripotency markers and the ability to differentiate into all three germ layers.
帕金森病（PD）是一种病因不明的神经退行性疾病。在此，我们展示了从一名59岁男性患者的皮肤成纤维细胞中生成的诱导多能干细胞（iPSC）系，名为CSC - 40。该患者在PTEN诱导的假定激酶1（PINK/PARK6）基因中存在纯合p.Q456X突变，且已确诊为帕金森病，此iPSC系可用于建立家族性帕金森病模型。我们采用了基于仙台病毒的无整合重编程因子OCT3/4、SOX2、c - MYC和KLF4递送方法。CSC - 40细胞系在转导后显示出正常的核型和指纹图谱，以及几种多能性标志物的持续表达和分化为所有三个胚层的能力。
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