Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.
Stem Cell Res. 2023 Sep;71:103164. doi: 10.1016/j.scr.2023.103164. Epub 2023 Jul 4.
Stargardt disease, a progressive retinal disorder, is associated with bi-allelic variants in ABCA4, a protein that is expressed in the retina. Induced pluripotent stem cell lines (RMCGENi005-A, SCTCi018-A, SCTCi017-A) were generated by lentivirus reprogramming of fibroblasts derived from Stargardt patients carrying different bi-allelic ABCA4 variants. All the generated lines showed pluripotent characteristics and no chromosomal aberrations. The availability of these lines will allow us to generate patient-derived photoreceptor precursor cells and retinal organoids to further study ABCA4 and thereby, Stargardt disease in relevant model systems carrying the patient's genetic background.
斯特格病（Stargardt disease）是一种进行性视网膜疾病，与 ABCA4 双等位基因突变相关，ABCA4 蛋白在视网膜中表达。通过慢病毒重编程来自携带不同双等位基因突变的斯特格病患者的成纤维细胞，生成诱导多能干细胞系（RMCGENi005-A、SCTCi018-A、SCTCi017-A）。所有生成的细胞系均表现出多能性特征，且无染色体异常。这些细胞系的可用性将使我们能够生成源自患者的感光细胞前体细胞和视网膜类器官，以在携带患者遗传背景的相关模型系统中进一步研究 ABCA4 和斯特格病。
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