| Autor: |
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 |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
Stem Cell Research, Vol 57, Iss , Pp 102556- (2021) |
| Druh dokumentu: |
article |
| ISSN: |
1873-5061 |
| DOI: |
10.1016/j.scr.2021.102556 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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