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Gridina, M.M.; Nikitina, T.V.; Orlova, P.A.; Minina, J.M.; Kashevarova, A.A.; Yakovleva, Yu.S.; Lopatkina, M.E.; Vasilyev, S.A.; Fedotov, D.A.; Mikhailik, L.I.; Nazarenko, L.P.; Lebedev, I.N.; Serov, O.L.
Stem cell research, December 2020, 2020-12-00, 20201201, 2020-12-01, Volume: 49Journal Article
Ring chromosomes are structural aberrations commonly associated with disease phenotype. We consider necessary to create the iPSCs with a ring chromosome 8, which can be used for disease modeling and related research. The ICGi025-A iPSCs line was obtained by the reprogramming of the skin fibroblasts from a 1-year-old boy with 46,XY,r(8)/45,XY,–8 mosaicism, developmental delay, microcephaly, dysmorphic features, diffuse muscle hypotonia, moderate proximal muscle weakness, feeding problems, and motor alalia. The iPSCs had expression of the pluripotency-associated markers. In vitro differentiated cells expressed the markers of the cells of three germ layers. That data allowed us to conclude that ICGi025-A cells were pluripotent.
