Establishment of an induced pluripotent stem cell line (ICGi025-A) from fibroblasts of a patient with 46,XY,r(8)/45,XY,-8 mosaicism
Summary
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. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Gridina MM, Nikitina TV, Orlova PA, Minina JM, Kashevarova AA, Yakovleva YS, Lopatkina ME, Vasilyev SA, Fedotov DA, Mikhailik LI, Nazarenko LP, Lebedev IN, Serov OL |
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| Journal | Stem cell research |
| Publication Date | 2020 Dec;49:102024 |
| PubMed | 33070101 |
| DOI | 10.1016/j.scr.2020.102024 |