两个在SRCAP基因浮港综合征位点发生杂合移码突变的iPSC系

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-05-07 DOI:10.1016/j.scr.2025.103730

J. Rhode , S. Edwards , A. Tzvetkova , L.R. Jensen , M.F. Hossain , B. Nowack , L. Hagenau , A.W. Kuss

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引用次数: 0

摘要

我们提出了两个CRISPR/ cas9修饰的人类iPSC系，在SRCAP基因的flhs位点存在杂合移码突变（NM_006662.3:c.7300_7301insA），该突变与float - harbor综合征（一种先天性神经发育障碍，其症状包括身材矮小和智力残疾）有关。iPSCs表达多能性标记物OCT4、SOX2、NANOG和TRA 1-60。它们显示分化为来自所有3种胚层的细胞，在测试区域没有染色体异常和脱靶突变。这种突变导致了先前在患者中发现的停止密码子。因此，任何一种细胞系都可以作为FLHS背景下研究SRCAP的疾病特异性模型。

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Two iPSC lines with a heterozygous frameshift mutation in the floating-harbour syndrome locus of the SRCAP gene

We present two CRISPR/Cas9-modified human iPSC lines with a heterozygous frameshift mutation (NM_006662.3:c.7300_7301insA) in the FLHS-locus of the SRCAP gene, which is associated with Floating-Harbor syndrome, a congenital neurodevelopmental disorder with symptoms including short stature and intellectual disability. The iPSCs express the pluripotency markers OCT4, SOX2, NANOG and TRA 1-60. They show differentiation into cells from all 3 germ layers, no chromosomal abnormalities and no off-target mutations in the tested regions. The mutation leads to a stop codon previously found in patients. Thus, either cell line can serve as disease-specific model for studying SRCAP in the context of FLHS.

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来源期刊

Stem cell research 生物-生物工程与应用微生物

CiteScore

2.20

自引率

8.30%

发文量

338

审稿时长

55 days

期刊介绍： Stem Cell Research is dedicated to publishing high-quality manuscripts focusing on the biology and applications of stem cell research. Submissions to Stem Cell Research, may cover all aspects of stem cells, including embryonic stem cells, tissue-specific stem cells, cancer stem cells, developmental studies, stem cell genomes, and translational research. Stem Cell Research publishes 6 issues a year.