诱导多能干细胞
重编程
生物
胚芽层
基因
突变
细胞培养
遗传学
细胞生物学
分子生物学
胚胎干细胞
作者
Carmen Hernández-Ainsa,Andrés Nascimento,Cristina Jou,Rafael Artuch,Julio Montoya,Eduardo Ruiz-Pesini,Sonia Emperador
标识
DOI:10.1016/j.scr.2021.102632
摘要
Autosomal recessive mutations in Thymidine kinase 2 (TK2) gene cause depletion and multiple deletions in mtDNA which normally lead to fatal and progressive neuromyopathy in infants and children. We have generated an induced pluripotent stem cell (iPSC) line by reprogramming fibroblasts derived from a patient carrying TK2 mutations. New iPSC line pluripotency was evaluated by verifying the expression of pluripotency-related genes and the in vitro differentiation into the three germ layers. This human-derived model will be useful for studying the pathogenic mechanisms triggered by these mutations and for testing therapies in cell types normally affected in patients.
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