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

Simple item page
dc.contributor.coauthorFatima, Neelam
dc.contributor.coauthorDillen, Lieke
dc.contributor.coauthorHommersom, Marina P.
dc.contributor.coauthorFatima, Fareeha
dc.contributor.coauthorvan Beusekom, Ellen
dc.contributor.coauthorAlbert, Silvia
dc.contributor.coauthorKhan, Asma Ali
dc.contributor.coauthorde Brouwer, Arjan P. M.
dc.contributor.coauthorvan Bokhoven, Hans
dc.contributor.kuauthorÇepni, Ece
dc.contributor.schoolcollegeinstituteGraduate School of Health Sciences
dc.date.accessioned2024-12-29T09:39:50Z
dc.date.issued2024
dc.description.abstractSGIP1 encodes a protein Src homology 3-domain growth factor receptor-bound 2-like endophilin interacting protein 1. It is involved in the regulation of clathrinmediated 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.
dc.description.indexedbyWoS
dc.description.indexedbyScopus
dc.description.indexedbyPubMed
dc.description.openaccesshybrid
dc.description.publisherscopeInternational
dc.description.volume80
dc.identifier.doi10.1016/j.scr.2024.103511
dc.identifier.eissn1876-7753
dc.identifier.issn1873-5061
dc.identifier.quartileQ4
dc.identifier.scopus2-s2.0-85200403558
dc.identifier.urihttps://doi.org/10.1016/j.scr.2024.103511
dc.identifier.urihttps://hdl.handle.net/20.500.14288/23130
dc.identifier.wos1288609600001
dc.keywordsCarrier proteins
dc.keywordsCell differentiation
dc.keywordsCell line
dc.keywordsCRISPR-Cas systems
dc.keywordsExons
dc.keywordsFrameshift mutation
dc.keywordsHumans
dc.keywordsInduced pluripotent stem cells
dc.languageen
dc.publisherElsevier
dc.sourceStem Cell Research
dc.subjectCell and tissue engineering
dc.subjectBiotechnology & applied microbiology
dc.subjectCell biology
dc.titleGeneration of induced pluripotent stem cell line (UCSFi001-A-77) carrying a biallelic frameshift variant in exon 4 of SGIP1 through CRISPR/Cas9
dc.typeJournal article
dspace.entity.typePublication
local.contributor.kuauthorÇepni, Ece

Files

Collections

Publications without Fulltext