从一位携带新型 CHCHD2 基因截断突变的早发性帕金森病患者中产生人诱导多能干细胞系。
Production of a human iPSC line from an early-onset Parkinson's disease patient with a novel CHCHD2 gene truncated mutation.
机构信息
Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China; Lab of Neurodegenerative Disorders, Institute of Inflammation and Immunology (III), Frontiers Science Center for Disease-Related Molecular Network, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China; Centre for Rare Diseases, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China.
Mental Health Center, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China.
出版信息
Stem Cell Res. 2022 Oct;64:102881. doi: 10.1016/j.scr.2022.102881. Epub 2022 Aug 4.
CHCHD2 mutations have been reported to cause Parkinson's disease (PD) by a loss of function in mitochondria. Most reported mutations, however, were missense, which was not the perfect model for a study of haploinsufficiency. Here, a truncated mutation, CHCHD2 p.Pro53Alafs*38, was identified in one familial early-onset PD patient. We generated a human-induced pluripotent stem cell (iPSC) line WCHSCUi001-A from this patient. The generated iPSCs resembled human embryonic stem cells, expressed pluripotency markers, exhibited a normal karyotype and could be differentiated into three germ layers in vitro. This line will be valuable for investigating the disease mechanisms and screening candidate drugs.
CHCHD2 突变通过在线粒体中丧失功能而被报道会导致帕金森病（PD）。然而，大多数报道的突变都是错义突变，这对于研究半合子不足并不是一个完美的模型。在这里，在一位家族性早发性 PD 患者中发现了截断突变 CHCHD2 p.Pro53Alafs*38。我们从该患者中生成了一个人类诱导多能干细胞（iPSC）系 WCHSCUi001-A。生成的 iPSCs 类似于人类胚胎干细胞，表达多能性标记物，具有正常的核型，并可在体外分化为三个胚层。该细胞系对于研究疾病机制和筛选候选药物将非常有价值。
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