Generation of induced pluripotent stem cell line (UCSFi001-A-77) carrying a biallelic frameshift variant in exon 4 of SGIP1 through CRISPR/Cas9

• Published in: Stem cell research Vol. 80; p. 103511
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.10.2024; Elsevier
• Subjects: Carrier Proteins - genetics; Carrier Proteins - metabolism; Cell Differentiation; Cell Line; CRISPR-Cas Systems; Exons; Frameshift Mutation; Humans; Induced Pluripotent Stem Cells - metabolism
• ISSN: 1873-5061; 1876-7753; 1876-7753
• DOI: 10.1016/j.scr.2024.103511

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.