Generation of IGGi003-A induced pluripotent stem cell line from a patient with Sotos Syndrome carrying c.1633delA NSD1 variant in exon 5
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Published:2024-04
Issue:
Volume:76
Page:103324
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ISSN:1873-5061
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Container-title:Stem Cell Research
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language:en
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Short-container-title:Stem Cell Research
Author:
Conteduca GiuseppinaORCID, Baldo Chiara, Arado Alessia, da Silva Joana Soraia Martinheira, Testa Barbara, Baldassari Simona, Zara Federico, Filaci Gilberto, Coviello Domenico, Malacarne Michela
Funder
Fondazione di Sardegna
Reference9 articles.
1. Baldassari, S., Cervetto, C., Amato, S., Fruscione, F., Balagura, G., Pelassa, S., Musante, I., Iacomino, M., Traverso, M., Corradi, A., Scudieri, P., Maura, G., Marcoli, M., Zara, F. 2022. Vesicular Glutamate Release from Feeder-FreehiPSC-Derived Neurons. Int J Mol Sci. 11;23(18):10545. doi: 10.3390/ijms231810545. PMID: 36142455; PMCID: PMC9501332. 2. NSD1 mutations in sotos syndrome induce differential expression of long noncoding rnas, mir646 and genes controlling the g2/m checkpoint;Conteduca;Life.,2022 3. Identification of Alternative Transcripts of NSD1 gene in Sotos Syndrome patients and healthy subjects;Conteduca;Gene,2022 4. Chromatin dysregulation associated with NSD1 mutation in head and neck squamous cell carcinoma;Farhangdoost;Cell Rep.,2021 5. Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions;Kondoh;J. Med. Genet.,2003
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