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

Stem Cell Res. 2024 Oct:80:103511. doi: 10.1016/j.scr.2024.103511. Epub 2024 Jul 27.

Abstract

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.

MeSH terms

  • CRISPR-Cas Systems*
  • Carrier Proteins / genetics
  • Carrier Proteins / metabolism
  • Cell Differentiation
  • Cell Line
  • Exons*
  • Frameshift Mutation*
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism

Substances

  • Carrier Proteins