Generation of isogenic and homozygous MEN1 mutant cell lines from patient-derived iPSCs using CRISPR/Cas9.
Generation of isogenic and homozygous MEN1 mutant cell lines from patient-derived iPSCs using CRISPR/Cas9.
复制标题
使用 CRISPR/Cas9 从患者来源的 iPSC 中生成等基因和纯合的 MEN1 突变细胞系。
DOI：
10.1016/j.scr.2023.103124
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发表时间：
2023
影响因子：
1.2
通讯作者：
Melmed,Shlomo
中科院分区：
文献类型：
--
作者：
Even-Zohar,Naomi;Metin-Armagan,Derya;Ben-Shlomo,Anat;Sareen,Dhruv;Melmed,Shlomo
MEN1是由肿瘤抑制基因MEN1突变引起的常染色体显性遗传病，表现为多发性内分泌/神经内分泌肿瘤的共发。使用单一多重CRISPR/Cas方法编辑来自携带突变c.1273C>T （p.a g465*）的索引患者的iPSC系，以创建等基因对照非突变系和纯合双突变系。这些细胞系将有助于阐明MEN1亚细胞病理生理和筛选确定潜在的MEN1治疗靶点。
MEN1, an autosomal dominant disorder caused by mutations in the tumor suppressor geneMEN1, manifests with co-occurrence of multiple endocrine/neuroendocrine neoplasms. An iPSC line derived from an index patient carrying the mutation c.1273C>T (p.Arg465*) was edited using a single multiplex CRISPR/Cas approach to create an isogenic control non-mutated line and a homozygous double mutant line. These cell lines will be useful for elucidating subcellular MEN1 pathophysiology and for screening to identify potential MEN1 therapeutic targets.