生成杂合型（MCRIi030-A-1）和纯合型（MCRIi030-A-2）NR2F2/COUP-TFII 敲除人诱导多能干细胞系。
Generation of heterozygous (MCRIi030-A-1) and homozygous (MCRIi030-A-2) NR2F2/COUP-TFII knockout human iPSC lines.
机构信息
Laboratory of Molecular and Translational Endocrinology (LEMT), Endocrinology Division, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil; The Murdoch Children's Research Institute, Melbourne, Australia.
The Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, The University of Melbourne, Melbourne, Australia; Novo Nordisk Foundation Center for Stem Cell Medicine (reNEW), Murdoch Children's Research Institute, Melbourne, Australia.
出版信息
Stem Cell Res. 2024 Apr;76:103374. doi: 10.1016/j.scr.2024.103374. Epub 2024 Mar 2.
The NR2F2 gene encodes the transcription factor COUP-TFII, which is upregulated in embryonic mesoderm. Heterozygous variants in NR2F2 cause a spectrum of congenital anomalies including cardiac and gonadal phenotypes. We generated heterozygous (MCRIi030-A-1) and homozygous (MCRIi030-A-2) NR2F2-knockout induced pluripotent stem cell (iPSC) lines from human fibroblasts using a one-step protocol for CRISPR/Cas9 gene-editing and episomal-based reprogramming. Both iPSC lines exhibited a normal karyotype, typical pluripotent cell morphology, pluripotency marker expression, and the capacity to differentiate into the three embryonic germ layers. These lines will allow us to explore the role of NR2F2 during development and disease.
NR2F2 基因编码转录因子 COUP-TFII，在胚胎中胚层中上调。NR2F2 的杂合变体导致一系列先天性异常，包括心脏和性腺表型。我们使用 CRISPR/Cas9 基因编辑和基于附加体的重编程的一步法，从人成纤维细胞中生成杂合子（MCRIi030-A-1）和纯合子（MCRIi030-A-2）NR2F2 敲除诱导多能干细胞（iPSC）系。这两个 iPSC 系均表现出正常的核型、典型的多能细胞形态、多能性标志物表达以及分化为三个胚胎生殖层的能力。这些系将使我们能够探索 NR2F2 在发育和疾病中的作用。
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