从一名巴西家族性肌萎缩侧索硬化症患者身上生成患者特异性多能诱导干细胞系UFRJi007-A。
Generation of patient-specific pluripotent induced stem cell line UFRJi007-A from a Brazilian familial amyotrophic lateral sclerosis patient.
作者信息
Gubert Fernanda, Vasques Juliana F, Cozendey Tatiane D, Domizi Pablo, Toledo María Fernanda, Kasai-Brunswick Tais H, Hochman-Mendez Camila, Junior Mário Campos, Zembrzuski Verônica Marques, Loureiro Marli P S, Lima José M B, Gress Claudio H, Cabello Giselda M K, Cabello Pedro H, Borgonovo Tamara, Vaz Isadora M, Silva Rosane, Mendez-Otero Rosalia
机构信息
Instituto de Biofísica Carlos Chagas Filho, UFRJ, Rio de Janeiro, Brazil; Instituto Nacional de Ciência e Tecnologia em Medicina Regenerativa, Rio de Janeiro, Brazil; Instituto de Ciências Biomédicas, Rio de Janeiro, Brazil.
Instituto de Biofísica Carlos Chagas Filho, UFRJ, Rio de Janeiro, Brazil; Instituto Nacional de Ciência e Tecnologia em Medicina Regenerativa, Rio de Janeiro, Brazil.
出版信息
Stem Cell Res. 2019 Aug;39:101490. doi: 10.1016/j.scr.2019.101490. Epub 2019 Jun 29.
Induced pluripotent stem cell (iPSC) line were generated from erythroblasts of a Brazilian patient with familiar form of amyotrophic lateral sclerosis (ALS). NGS analysis demonstrated that patient carried a mutation in SOD1 gene, as well as a deletion in FUS gene. CytoTune™-iPS 2.0 Sendai Reprogramming Kit (containing the reprogramming factors OCT3/4, KLF4, SOX2 and cMYC) was used to generate the cell lines. The iPSCs express pluripotency markers, have normal karyotype and differentiated spontaneously in the three germ layers. The expression of Sendai virus was lost in all iPSC lines after 15 passages.
诱导多能干细胞（iPSC）系由一名患有家族性肌萎缩侧索硬化症（ALS）的巴西患者的成红细胞生成。二代测序（NGS）分析表明，该患者的超氧化物歧化酶1（SOD1）基因存在突变，以及融合蛋白（FUS）基因存在缺失。使用CytoTune™-iPS 2.0仙台重编程试剂盒（包含重编程因子OCT3/4、KLF4、SOX2和cMYC）来生成细胞系。这些诱导多能干细胞表达多能性标志物，具有正常的核型，并能自发分化为三个胚层。在传代15次后，所有诱导多能干细胞系中仙台病毒的表达均消失。
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