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Generation of two induced pluripotent stem cell lines from a patient with recessive inherited retinal disease caused by compound heterozygous mutations in SNRNP200
Stem Cell Research ( IF 0.8 ) Pub Date : 2021-01-05 , DOI: 10.1016/j.scr.2020.102154
Dan Zhang 1 , Samuel McLenachan 2 , Shang-Chih Chen 1 , Khine Zaw 1 , Yaqin Alziyadat 3 , Xiao Zhang 1 , Tina M Lamey 4 , Jennifer A Thompson 5 , Terri L McLaren 4 , Carla Mellough 2 , John N De Roach 4 , Fred K Chen 6
Affiliation  

The human induced pluripotent stem cell (iPSC) lines LEIi015-A and LEIi015-B were derived from a patient with inherited retinal disease caused by compound heterozygous mutations in the SNRNP200 gene (c.[1792C>T];[3341T>C]). Dermal fibroblasts were transfected with episomal plasmids carrying transgenes encoding OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for P53. The clonal iPSC lines LEIi015-A and LEIi015-B expressed iPSC markers, were free from genomic alterations and demonstrated trilineage differentiation potential.



中文翻译:

SNRNP200的复合杂合突变引起的隐性遗传性视网膜疾病患者产生两种诱导的多能干细胞系

人诱导的多能干细胞(iPSC)系LEIi015-A和LEIi015-B源自患有由SNRNP200基因的复合杂合突变引起的遗传性视网膜疾病的患者(c。[1792C> T]; [3341T> C]) 。用携带OCT4SOX2KLF4L-MYCLIN28,mir302 / 367 microRNA和shRNA编码P53的转基因的附加质粒转染真皮成纤维细胞。克隆的iPSC系LEIi015-A和LEIi015-B表达了iPSC标记,没有基因组改变,并显示了三系分化潜能。

更新日期:2021-01-10
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