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

Результат исследования: Научные публикации в периодических изданияхстатья

Аннотация

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.

Язык оригиналаанглийский
Номер статьи101922
Число страниц5
ЖурналStem Cell Research
Том47
Ранняя дата в режиме онлайн25 июл 2020
DOI
СостояниеОпубликовано - 1 авг 2020

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    Malakhova, A. A., Grigor'eva, E. V., Vasilyeva, O. Y., Zhigalina, D. I., Skryabin, N. A., Sivtcev, A. A., Kolesnikov, N. A., Bueverov, A. O., Lebedev, I. N., Bogomolov, P. O., & Zakian, S. M. (2020). Generation of two induced pluripotent stem cell lines from peripheral blood mononuclear cells of a patient with Wilson's disease. Stem Cell Research, 47, [101922]. https://doi.org/10.1016/j.scr.2020.101922