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...

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Bibliographic Details
Published in:	Stem cell research Vol. 49; p. 102024
Main Authors:	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.
Format:	Journal Article
Language:	English
Published:	England Elsevier B.V 01-12-2020 Elsevier
Online Access:	Get full text
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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.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	1873-5061 1876-7753
DOI:	10.1016/j.scr.2020.102024