Generation of an induced pluripotent stem cell line ICGi030-A from a Wilson's disease patient carrying a frameshift mutation p.Lys1013fs and missense mutation p.H1069Q in the ATP7B gene

Generation of an induced pluripotent stem cell line ICGi030-A from a Wilson's disease patient carrying a frameshift mutation p.Lys1013fs and missense mutation p.H1069Q in the ATP7B gene

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 reprogramme...

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Main Authors: D.I. Zhigalina, A.A. Malakhova, O.Yu. Vasilyeva, E.V. Grigor'eva, A.A. Sivtsev, N.A. Kolesnikov, M.E. Lopatkina, R.R. Savchenko, I.Zh. Zhalsanova, A.E. Postrigan', A.A. Zarubin, T.V. Nikitina, A.O. Bueverov, P.O. Bogomolov, S.M. Zakian, N.A. Skryabin
Format: Article
Language:English
Published: Elsevier 2021-12-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506121004037

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