Fatima Neelam, Dillen Lieke, Hommersom Marina P, Çepni Ece, Fatima Fareeha, van Beusekom Ellen, Albert Silvia, Ali Khan Asma, de Brouwer Arjan P M, van Bokhoven Hans
Center of Excellence in Molecular Biology, University of Punjab, Lahore, Pakistan.
Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
Stem Cell Res. 2024 Oct;80:103511. doi: 10.1016/j.scr.2024.103511. Epub 2024 Jul 27.
SGIP1 encodes a protein Src homology 3-domain growth factor receptor-bound 2-like endophilin interacting protein 1. It is involved in the regulation of clathrin-mediated endocytosis along with having a role in energy homeostasis in neuronal systems. We generated an isogenic human induced pluripotent stem cell (iPSC) line with a biallelic frameshift variant in SGIP1. This exon has been shown to be subject to alternative splicing, leading to an isoform lacking 24 amino acids that are present in the longest SGIP isoform. The newly generated iPSC line will be helpful to dissect the differential properties of the two SGIP isoforms.
SGIP1编码一种蛋白质，即与生长因子受体结合蛋白2样内吞蛋白相互作用的含Src同源3结构域蛋白1。它参与网格蛋白介导的内吞作用的调节，同时在神经系统的能量稳态中发挥作用。我们生成了一个在SGIP1中具有双等位基因移码变异的同基因人类诱导多能干细胞（iPSC）系。该外显子已被证明会发生可变剪接，导致一种缺少最长SGIP异构体中存在的24个氨基酸的异构体。新生成的iPSC系将有助于剖析两种SGIP异构体的不同特性。
