从携带致 Stargardt 病双等位基因突变的患者诱导多能干细胞中生成三条同基因对照系。
Generation of three isogenic control lines from patient-derived iPSCs carrying bi-allelic ABCA4 variants underlying Stargardt disease.
机构信息
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
出版信息
Stem Cell Res. 2023 Sep;71:103169. doi: 10.1016/j.scr.2023.103169. Epub 2023 Jul 17.
Stargardt disease, a progressive retinal disorder, is associated with bi-allelic variants in ABCA4. Employing the CRISPR/Cas9 approach, we generated isogenic control lines (RMCGENi005-A-1, RMCGENi018-A-1, RMCGENi017-A-1) for each of three induced pluripotent stem cell lines (RMCGENi005-A, RMCGENi018-A, RMCGENi017-A) derived from Stargardt patients carrying compound heterozygous ABCA4 variants. All of the generated lines showed pluripotent characteristics, no chromosomal aberrations and no indication of off-targets. The availability of these isogenic control lines will allow us to have a fair comparison between health and disease state within our studies on Stargardt disease.
斯特格德特病是一种进行性视网膜疾病，与 ABCA4 的双等位基因变异有关。我们采用 CRISPR/Cas9 方法，为每位来自携带 ABCA4 复合杂合变异的斯特格德特病患者的诱导多能干细胞系（RMCGENi005-A、RMCGENi018-A、RMCGENi017-A）生成了同源对照系（RMCGENi005-A-1、RMCGENi018-A-1、RMCGENi017-A-1）。所有生成的系均表现出多能特征，没有染色体异常，也没有脱靶的迹象。这些同源对照系的可用性将使我们能够在对斯特格德特病的研究中，在健康和疾病状态之间进行公平的比较。
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