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

A. A. Malakhova, E. V. Grigor'eva, O. Yu Vasilyeva, D. I. Zhigalina, N. A. Skryabin, A. A. Sivtcev, N. A. Kolesnikov, A. O. Bueverov, I. N. Lebedev, P. O. Bogomolov, S. M. Zakian

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Article number101922
Number of pages5
JournalStem Cell Research
Volume47
Early online date25 Jul 2020
DOIs
Publication statusPublished - 1 Aug 2020

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