Generation of an induced pluripotent stem cell line from a patient with autism spectrum disorder and SCN2A haploinsufficiency

Sampaio, Gabriela Louise de Almeida; Martins, Gabriele Louise Soares; Paredes, Bruno Diaz; Nonaka, Carolina Kymie Vasques; Silva, Kátia Nunes da; Rossi, Erik Aranha; Santos, Ricardo Ribeiro dos; Soares, Milena Botelho Pereira; Souza, Bruno Solano de Freitas

doi:10.1016/j.scr.2019.101488

Cited by 4 publications

(3 citation statements)

References 3 publications

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“…Na complementaridade das pesquisas genéticas, novas plataformas de mimetização de transtornos surgiram nos últimos tempos. Essa metodologia é realizada por meio da reprogramação de células somáticas, provenientes de indivíduos com a condição desejada para estudo e auxiliam nas análises que necessitariam de estudos invasivos ao longo do desenvolvimento embrionário 24,28 .…”

Section: Autores Tipo Título Original Resultados / Conclusãounclassified

Autismo no Brasil: uma revisão sobre estudos em neurogenética

Evangelho

Costa²,

Castro

et al. 2021

Rev Neurocienc

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Objetivo. Identificar artigos, dissertações e teses brasileiras relacionadas a neurogenética do autismo, entre os anos de 2017 e 2020. Método. A triagem dos trabalhos publicados nas grandes áreas das ciências biológicas e ciências da saúde foi realizada por meio das bases de dados PUBMED, SCIELO e plataforma CAPES. Resultados. Identificaram-se 225 trabalhos, divididos em 123 artigos científicos, indexados nas bases de dados e 102 trabalhos de pós-graduação. Os critérios de inclusão e exclusão resultaram em 14 pesquisas acerca dos fatores genéticos e neurobiológicos na população brasileira. Conclusões. O crescimento exponencial de casos de autismo corrobora a relevância das pesquisas voltadas para a identificação e compreensão dos fatores moleculares no autismo. Devido à complexidade da etiologia, é fundamental a realização de mais estudos em neurogenética na população brasileira, capazes de auxiliar no desenvolvimento de testes moleculares mais efetivos no diagnóstico e tratamento deste transtorno.

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Section: Autores Tipo Título Original Resultados / Conclusãounclassified

Autismo no Brasil: uma revisão sobre estudos em neurogenética

Evangelho

Costa²,

Castro

et al. 2021

Rev Neurocienc

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“…Both types of cells were reprogrammed with the CytoTune-iPS 2.0 Sendai Reprogramming Kit that contains Yamanaka factors. Yamanaka factors have been reported many times in the literature as adequate for effective reprogramming [ 4 , 41 , 42 , 43 ]. The efficiency of iPSC generation using the Sendai virus is much higher than that of conventional vectors [ 43 ].…”

Section: Discussionmentioning

confidence: 99%

Generation of Induced Pluripotent Stem Cells from Patients with Multiple Myeloma

Basaran¹,

Karaöz²

2021

Tjh

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Objective: Patient-specific induced pluripotent stem cells (iPSCs) have potential in human disease modeling and regenerative medicine. The in vitro phenotype of disease-specific iPSC-derived cells can be used to bridge the knowledge gap between clinical phenotype and molecular or cellular pathophysiology and to understand the pathology of diseases, along with further applications, such as creating new strategies for drug screening or developing novel therapeutic agents. The aim of our study was to generate iPSCs from multiple myeloma (MM) patients. Materials and Methods: Mesenchymal stem cells (MSCs) isolated from MM patients were induced for pluripotency via the Sendai virus. Fibroblasts were used as a control. Microscopic analysis was performed daily. For colony selection, live staining was done using alkaline phosphatase staining. Reprogramming experiments were confirmed by flow cytometry, immunofluorescence (IF) staining, and gene expression analyses. To confirm the spontaneous differentiation potential, an in vitro embryonic body (EB) formation assay was performed. Results: Fibroblasts and MSCs obtained from MM patients were reprogrammed using the Sendai virus, which contains reprogramming vectors with the four Yamanaka factors, Oct3/4, Sox2, Klf4, and c-Myc. Microscopic analysis revealed that the generated iPSCs possessed classical embryonic stem cell-like morphological characteristics. Reprogramming experiments further showed that both cell lines can be reprogrammed up to the pluripotent stage, which was confirmed by flow cytometry, IF staining, and gene expression analyses. Spontaneous differentiation potential was confirmed by in vitro EB formation assays. Conclusion: iPSCs have been successfully obtained from MM patients for the first time. These cells could clarify the molecular mechanisms behind this disease.

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“…To date, one patient-derived SCN2A syndrome iPSC line has been published, though no data have yet been published using it as an experimental model [82]. However, a number of investigators have used CRISPR to genetically modify the SCN2A gene in stem cells derived from control subjects, which have revealed phenotypes that mirror those observed in mouse models of SCN2A syndrome mentioned above.…”

Section: Cell-based Scn2a Models Human Stem Cell Models Of Scn2a Mutamentioning

confidence: 99%

SCN2A channelopathies in the autism spectrum of neuropsychiatric disorders: a role for pluripotent stem cells?

et al. 2020

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Efforts to identify the causes of autism spectrum disorders have highlighted the importance of both genetics and environment, but the lack of human models for many of these disorders limits researchers' attempts to understand the mechanisms of disease and to develop new treatments. Induced pluripotent stem cells offer the opportunity to study specific genetic and environmental risk factors, but the heterogeneity of donor genetics may obscure important findings. Diseases associated with unusually high rates of autism, such as SCN2A syndromes, provide an opportunity to study specific mutations with high effect sizes in a human genetic context and may reveal biological insights applicable to more common forms of autism. Loss-of-function mutations in the SCN2A gene, which encodes the voltage-gated sodium channel Na V 1.2, are associated with autism rates up to 50%. Here, we review the findings from experimental models of SCN2A syndromes, including mouse and human cell studies, highlighting the potential role for patientderived induced pluripotent stem cell technology to identify the molecular and cellular substrates of autism.

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Generation of an induced pluripotent stem cell line from a patient with autism spectrum disorder and SCN2A haploinsufficiency

Cited by 4 publications

References 3 publications

Autismo no Brasil: uma revisão sobre estudos em neurogenética

Autismo no Brasil: uma revisão sobre estudos em neurogenética

Generation of Induced Pluripotent Stem Cells from Patients with Multiple Myeloma

SCN2A channelopathies in the autism spectrum of neuropsychiatric disorders: a role for pluripotent stem cells?

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