E. V. Dementyeva, A. K. Zaytseva, J. M. Minina, O. V. Melnik, S. M. Zakian, A. A. Kostareva
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Generation of an Induced Pluripotent Stem Cell Line ICGi045-A of a RASopathy Patient Carrying p.Glu329Lys Variant in SOS1
Abstract
A combination of induced pluripotent stem cell (iPSC) technology and methods of nucleotide sequence editing allows clarifying contribution of genetic variants to human disease development. In this study, an iPSC line (ICGi045-A) of a RASopathy patient carrying a variant of unknown significance, c.985G>A (p.Glu329Lys) in SOS1, was generated. The ICGi045-A line displayed iPSC properties—similar morphology, expression of pluripotent state markers (OCT4, NANOG, SOX2, TRA-1-60), capacity to give rise to derivatives of three germ layers during spontaneous differentiation, and retained normal karyotype (46,XX). This line can be used for generating isogenic iPSC lines to find out clinical significance of c.985G>A (p.Glu329Lys) variant in SOS1.
期刊介绍：
Russian Journal of Developmental Biology is a journal that publishes reviews and experimental articles dealing with various aspects of developmental biology. It presents fundamental and applied research on development, regeneration, and carcinogenesis at the molecular, cellular, and organismic levels.
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