Establishment of an induced pluripotent stem cell line (ICGi025-A) from fibroblasts of a patient with 46,XY,r(8)/45,XY,-8 mosaicism


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
Journal Stem cell research
Publication Date 2020 Dec;49:102024
PubMed 33070101
DOI 10.1016/j.scr.2020.102024

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