Generation of two induced pluripotent stem cell lines from peripheral blood mononuclear cells of a patient with Wilson’s disease

• Published in: Stem cell research Vol. 47; p. 101922
• Main Authors: Malakhova, A.A., Grigor'eva, E.V., Vasilyeva, O.Yu, Zhigalina, D.I., Skryabin, N.A., Sivtcev, A.A., Kolesnikov, N.A., Bueverov, A.O., Lebedev, I.N., Bogomolov, P.O., Zakian, S.M.
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.08.2020; Elsevier
• ISSN: 1873-5061; 1876-7753
• DOI: 10.1016/j.scr.2020.101922

Wilson’s disease is an inherited disorder associated with copper accumulation in the liver, brain and other vital organs. Wilson’s disease is caused by mutations in the ATP7B gene. Over 300 mutations of ATP7B have been described. Despite the disease is autosomal recessive, the patient whose PBMCs were reprogrammed in the study harbours heterozygous mutation c.3207C > A (p.H1069Q). Detailed analysis of the ATP7B complete gene sequencing data has not revealed other known disease associated mutation. The generated iPSC lines maintained the original genotype, expressed pluripotency markers, had normal karyotype and demonstrated the ability to differentiate into derivatives of the three germ layers.