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


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. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Malakhova AA, Grigor'eva EV, Vasilyeva OY, Zhigalina DI, Skryabin NA, Sivtcev AA, Kolesnikov NA, Bueverov AO, Lebedev IN, Bogomolov PO, Zakian SM
Journal Stem cell research
Publication Date 2020 Jul 25;47:101922
PubMed 32738633
DOI 10.1016/j.scr.2020.101922

Research Projects

Cell Lines