生成携带 SOS1 中 p.Glu329Lys 变异的 RAS 病患者的诱导多能干细胞系 ICGi045-A

Pub Date : 2024-07-18 DOI:10.1134/s1062360424700036

E. V. Dementyeva, A. K. Zaytseva, J. M. Minina, O. V. Melnik, S. M. Zakian, A. A. Kostareva

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引用次数: 0

摘要

摘要将诱导多能干细胞（iPSC）技术与核苷酸序列编辑方法相结合，可以明确基因变异对人类疾病发展的影响。在这项研究中，从一名携带SOS1中c.985G>A (p.Glu329Lys)意义不明变体的RAS病患者身上产生了一个iPSC品系（ICGi045-A）。ICGi045-A 株系显示出 iPSC 特性--相似的形态、多能状态标志物（OCT4、NANOG、SOX2、TRA-1-60）的表达、在自发分化过程中产生三个生殖层衍生物的能力，并保留了正常核型（46,XX）。该品系可用于产生同源 iPSC 品系，以找出 SOS1 中 c.985G>A (p.Glu329Lys) 变异的临床意义。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Generation of an Induced Pluripotent Stem Cell Line ICGi045-A of a RASopathy Patient Carrying p.Glu329Lys Variant in SOS1

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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.

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