包含SRCAP基因远端DEHMBA相关位点突变的三个修饰的人类IPSC系

IF 0.7 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-09-30 DOI:10.1016/j.scr.2025.103847

Johannes Rhode , Lisa Hagenau , Stephanie Edwards , Falk F.R. Buettner , Ana Tzvetkova , Lars R. Jensen , Andreas W. Kuss

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引用次数: 0

摘要

我们使用CRISPR/Cas9修饰了现有的人类iPSC系（MHHi001-A），在与DEHMBA疾病（OMIM 619595）相关的SRCAP基因位点引入杂合移码突变。改良的iPSCs表达多种干细胞标记物，并能够分化为来自所有三个胚胎胚层的细胞。没有检测到额外的修饰或染色体缺陷。这些修饰的细胞可以作为研究SRCAP在不同细胞类型中参与DEHMBA（发育迟缓、肌张力低下、肌肉骨骼缺陷和行为异常）疾病和/或其分子功能的模型。

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Three modified human IPSC lines containing mutations in the distal DEHMBA associated locus of the SRCAP gene

We modified an existing human iPSC line (MHHi001-A), using CRISPR/Cas9, to introduce heterozygous frameshift mutations in a locus of the SRCAP gene that is associated with the DEHMBA disease (OMIM 619595). The modified iPSCs express several stem cell markers and are able to differentiate into cells originating from all three embryonic germ layers. No additional modifications or chromosomal defects were detected. The modified cells can serve as a model for the investigation of the involvement of SRCAP in DEHMBA (Developmental delay, Hypotonia, Musculoskeletal defects, and Behavioral Abnormalities) disease and/or its molecular functions in different cell types.

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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.