Zhigalina D I, Malakhova A A, Vasilyeva O Yu, Grigor'eva E V, Sivtsev A A, Kolesnikov N A, Lopatkina M E, Savchenko R R, Zhalsanova I Zh, Postrigan' A E, Zarubin A A, Nikitina T V, Bueverov A O, Bogomolov P O, Zakian S M, Skryabin N A
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russia.
Federal Research Center Institute of Cytology and Genetics, the Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia; E.N. Meshalkin National Medical Research Center, Ministry of Health of the Russian Federation, Novosibirsk, Russia; Institute of Chemical Biology and Fundamental Medicine, the Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia.
Stem Cell Res. 2021 Dec;57:102556. doi: 10.1016/j.scr.2021.102556. Epub 2021 Sep 30.
Wilson's disease is a rare autosomal recessive disorder of copper metabolism. The copper accumulation in the viscera appears due to the functional impairment of copper-transporting ATPase, which is encoded by the ATP7B gene. In this study, PBMCs of a patient with two ATP7B mutations were reprogrammed. The first mutation is a missense mutation p.H1069Q, which is the most frequent mutation in the human population. At the same time, the second one is a frameshift mutation p.Lys1013fs. The generated iPSC line had a normal karyotype, maintained the original genotype, expressed pluripotency markers, and demonstrated the ability to differentiate into derivatives of the three germ layers.
威尔逊病是一种罕见的常染色体隐性铜代谢障碍疾病。由于由ATP7B基因编码的铜转运ATP酶功能受损，导致内脏中铜蓄积。在本研究中，对一名具有两个ATP7B突变的患者的外周血单个核细胞进行了重编程。第一个突变是错义突变p.H1069Q，这是人群中最常见的突变。同时，第二个突变是移码突变p.Lys1013fs。所产生的诱导多能干细胞系具有正常的核型，维持了原始基因型，表达多能性标志物，并表现出分化为三个胚层衍生物的能力。
