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

被引：0
|
作者：
Dementyeva, E. V. [1 ]
Zaytseva, A. K. [1 ,2 ]
Minina, J. M. [1 ]
Melnik, O. V. [2 ]
Zakian, S. M. [1 ,3 ]
Kostareva, A. A. [2 ]
机构：
[1] Russian Acad Sci, Fed Res Ctr Inst Cytol & Genet, Siberian Branch, Novosibirsk 630090, Russia
[2] Almazov Natl Med Res Ctr, St Petersburg 197341, Russia
[3] Meshalkin Natl Med Res Ctr, Novosibirsk 630055, Russia
来源：
RUSSIAN JOURNAL OF DEVELOPMENTAL BIOLOGY | 2024年 / 55卷 / 01期
基金：
俄罗斯科学基金会;
关键词：
RASopathies; variants of unknown significance; induced pluripotent stem cells;
D O I：
10.1134/S1062360424700036
中图分类号：
Q [生物科学];
学科分类号：
07 ; 0710 ; 09 ;
摘要：
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.
引用
收藏
页码：26 / 33
页数：8
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