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Assessment of mitotic and genomic stability of lymphoblastoid cells from patients with Cornelia de Lange Syndrome

Grant number: 22/09582-1
Support Opportunities:Scholarships in Brazil - Doctorate (Direct)
Effective date (Start): August 01, 2022
Field of knowledge:Health Sciences - Medicine - Medical Clinics
Principal Investigator:Maria Isabel de Souza Aranha Melaragno
Grantee:Thainá Vilella Rodrigues Maria
Host Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil
Associated research grant:19/21644-0 - Impact of genetic variants on genomic stability and their effects on the phenotype, AP.TEM
Associated scholarship(s):23/15065-2 - Gene expression profiling in CdLS cell lines, BE.EP.DD


Cornelia de Lange Syndrome (CdLS) is a rare multisystem genetic disease that has diverse physical, cognitive, and behavioral characteristics. CdLS is caused by genetic variations in genes that affect the regulation of cohesin, which is a protein complex that has regulatory factors for the cell cycle, being essential for cell survival and maintenance of genome stability. There are several genes involved in this complex that can be altered in individuals with CdLS, among them the NIPBL, and this syndrome is considered a cohesinopathy. This study aims to evaluate the mechanisms of mitotic and genomic stability in lymphoblastoid lineage cells from patients with the syndrome. Blood samples will be collected from patients with a nonsense mutation in the NIPBL gene. Sanger sequencing will be performed in the patients to confirm the mutation and NIPBL gene expression analysis will be performed from peripheral blood material. Extraction of mononuclear cells and isolation of lymphocytes for transformation into lymphoblastoid lineage (LCL) using Epstein-Barr virus (EBV) will be performed, in order to obtain an immortalized lineage. The cells will be cultivated for further viability, proliferation, apoptosis, and comet assay, as well as RNA-seq, compared to control individuals. The data from this study will improve the understanding of the etiopathogenesis of the disease and the correlation with the clinical features of the patients. (AU)

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