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Generation of induced pluripotent stem cell lines from two unrelated patients affected by intellectual disability carrying homozygous variants in SGIP1

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dc.contributor.coauthorDillen, Lieke
dc.contributor.coauthorFatima, Neelam
dc.contributor.coauthorHommersom, Marina P.
dc.contributor.coauthorFatima, Fareeha
dc.contributor.coauthorvan Beusekom, Ellen
dc.contributor.coauthorAlbert, Silvia
dc.contributor.coauthorHagen, Johanna M. van
dc.contributor.coauthorVries, Bert B. A. de
dc.contributor.coauthorKhan, Asma Ali
dc.contributor.coauthorBrouwer, Arjan P. M. de
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.abstractIntellectual disability (ID) is a diverse neurodevelopmental condition and almost half of the cases have a genetic etiology. SGIP1 acts as an endocytic protein that influences the signaling of receptors in neuronal systems related to energy homeostasis through its interaction with endophilins. This study focuses on the generation and characterization of induced pluripotent stem cells (iPSC) from two unrelated patients due to a frameshift variant (c.764dupA, NM_032291.4) and a splice donor site variant (c.74 + 1G > A, NM_032291.4) in the SGIP1 gene.
dc.description.indexedbyWoS
dc.description.indexedbyScopus
dc.description.indexedbyPubMed
dc.description.openaccessgold
dc.description.publisherscopeInternational
dc.description.volume77
dc.identifier.doi10.1016/j.scr.2024.103442
dc.identifier.eissn1876-7753
dc.identifier.issn1873-5061
dc.identifier.quartileQ4
dc.identifier.scopus2-s2.0-85192516932
dc.identifier.urihttps://doi.org/10.1016/j.scr.2024.103442
dc.identifier.urihttps://hdl.handle.net/20.500.14288/23129
dc.identifier.wos1242563800001
dc.keywordsCell line
dc.keywordsChild
dc.keywordsFemale
dc.keywordsHomozygote
dc.keywordsHumans
dc.keywordsInduced pluripotent stem cells
dc.keywordsIntellectual disability
dc.keywordsMale
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 lines from two unrelated patients affected by intellectual disability carrying homozygous variants in SGIP1
dc.typeJournal article
dspace.entity.typePublication
local.contributor.kuauthorÇepni, Ece

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