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

Autor:	Fatima N; Center of Excellence in Molecular Biology, University of Punjab, Lahore, Pakistan., Dillen L; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands., Hommersom MP; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands., Çepni E; Institute of Health Sciences, Koç University,Istanbul 34010, Turkey., Fatima F; Center of Excellence in Molecular Biology, University of Punjab, Lahore, Pakistan., van Beusekom E; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands., Albert S; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands., Ali Khan A; Center of Excellence in Molecular Biology, University of Punjab, Lahore, Pakistan., de Brouwer APM; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands., van Bokhoven H; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands; Department of Cognitive (c)Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center,Nijmegen 6500 HB, Netherlands. Electronic address: hans.vanbokhoven@radboudumc.nl.
Jazyk:	angličtina
Zdroj:	Stem cell research [Stem Cell Res] 2024 Oct; Vol. 80, pp. 103511. Date of Electronic Publication: 2024 Jul 27.
DOI:	10.1016/j.scr.2024.103511
Abstrakt:	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. Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. (Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.)
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu