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Generation of induced pluripotent stem cell lines AKOSi002-A and AKOSi003-A from symptomatic female adults with Wilson disease.
Stem Cell Research ( IF 0.8 ) Pub Date : 2020-01-27 , DOI: 10.1016/j.scr.2020.101708
Janine Petters 1 , Chiara Cimmaruta 1 , Katharina Iwanov 1 , Matthew L Chang 1 , Christin Völkner 1 , Gudrun Knuebel 2 , Hugo Murua Escobar 2 , Moritz J Frech 3 , Andreas Hermann 4 , Arndt Rolfs 5 , Jan Lukas 3
Affiliation  

Wilson disease (WD) is an inherited, autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene. Pathogenic single nucleotide variants (SNVs) lead to functional impairment of the copper transporting ATPase ATP7B, resulting in copper accumulation and toxicity in the liver and brain. We describe the generation of two induced pluripotent stem cell (iPSC) lines derived from fibroblasts of two female WD patients. Patient 1 is compound heterozygous for p.E1064A and p.H1069Q. Patient 2 is homozygous for p.M769V. These iPSCs represent a WD model for pathophysiological studies and pharmacological screening.



中文翻译:

从患有威尔逊病的有症状女性成虫中诱导多能干细胞系AKOSi002-A和AKOSi003-A的产生。

威尔逊病(WD)是一种由ATP7B基因突变引起的铜代谢的遗传性常染色体隐性遗传疾病。致病性单核苷酸变异体(SNV)导致铜转运ATPase ATP7B的功能受损,从而导致铜在肝脏和大脑中蓄积并产生毒性。我们描述了从两名女性WD患者的成纤维细胞衍生的两个诱导性多能干细胞(iPSC)系的生成。患者1是p.E1064A和p.H1069Q的复合杂合子。患者2对p.M769V是纯合的。这些iPSC代表用于病理生理研究和药理筛选的WD模型。

更新日期:2020-01-27
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