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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Bibliographic Details
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
Description
Summary: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.
ISSN:1873-5061

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