| Author | Silva, Isabelle Leticia Zaboroski | |
| Author | Gomes‑Júnior, Rubens | |
| Author | Silva, Evelin Brandão da | |
| Author | Vaz, Isadora May | |
| Author | Jamur, Valderez Ravaglio | |
| Author | Souza, Bruno Solano de Freitas | |
| Author | Shigunov, Patrícia | |
| Access date | 2023-10-16T17:39:28Z | |
| Available date | 2023-10-16T17:39:28Z | |
| Document date | 2023 | |
| Citation | SILVA, Isabelle Leticia Zaboroski et al. Generation of an induced pluripotent stem cell line from a patient with epileptic encephalopathy caused by the CYFIP2 R87C variant. Human Cell. p. 1-10, 2023. | en_US |
| ISSN | 1749-0774 | en_US |
| URI | https://www.arca.fiocruz.br/handle/icict/60815 | |
| Language | por | en_US |
| Publisher | Springer | en_US |
| Rights | open access | en_US |
| Subject in Portuguese | CYFIP2 | en_US |
| Subject in Portuguese | iPSC | en_US |
| Title | Generation of an induced pluripotent stem cell line from a patient with epileptic encephalopathy caused by the CYFIP2 R87C variant | en_US |
| Type | Article | en_US |
| Abstract | Induced pluripotent stem cells (iPSCs) opened the possibility to use patient cells as a model for several diseases. iPSCs can be reprogrammed from somatic cells collected in a non-invasive way, and then diferentiated into any other cell type, while maintaining the donor´s genetic background. CYFIP2 variants were associated with the onset of an early form of epileptic encephalopathy. Studies with patients showed that the R87C variant seems to be one of the variants that causes more severe disease, however, to date there are no studies with a human cell model that allows investigation of the neuronal phenotype of the R87C variant. Here, we generated an iPSC line from a patient with epileptic encephalopathy caused by the CYFIP2 R87C variant. We obtained iPSC clones by reprogramming urinary progenitor cells from a female patient. The generated iPSC line presented a pluripotent stem cell morphology, normal karyotype, expressed pluripotency markers and could be diferentiated into the three germ layers. In further studies, this cell line could be used as model for epileptic encephalopathy disease and drug screening studies. | en_US |
| Affilliation | Fundação Oswaldo Cruz. Instituto Carlos Chagas. Laboratório de Biologia Básica de Células Tronco. Curitiba, PR, Brasil. | en_US |
| Affilliation | Fundação Oswaldo Cruz. Instituto Carlos Chagas. Laboratório de Biologia Básica de Células Tronco. Curitiba, PR, Brasil. | en_US |
| Affilliation | Fundação Oswaldo Cruz. Instituto Carlos Chagas. Laboratório de Biologia Básica de Células Tronco. Curitiba, PR, Brasil. | en_US |
| Affilliation | Pontifícia Universidade Católica do Paraná. Escola de Medicina. Núcleo de Tecnologia Celular. Curitiba, PR, Brasil. | en_US |
| Affilliation | Pontifícia Universidade Católica do Paraná. Escola de Medicina. Núcleo de Tecnologia Celular. Curitiba, PR, Brasil. | en_US |
| Affilliation | Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Salvador, BA, Brasil. / Instituto D’Or de Pesquisa e Ensino. Salvador, BA, Brasil. | en_US |
| Affilliation | Fundação Oswaldo Cruz. Instituto Carlos Chagas. Laboratório de Biologia Básica de Células Tronco. Curitiba, PR, Brasil. | en_US |
| Subject | Epileptic Syndromes | en_US |
| Subject | Brain Diseases | en_US |
| Subject | Induced Pluripotent Stem Cells | en_US |
| Subject in Spanish | Síndromes Epilépticos | en_US |
| Subject in Spanish | Encefalopatías | en_US |
| Subject in Spanish | Células Madre Pluripotentes Inducidas | en_US |
| Subject in French | Syndromes épileptiques | en_US |
| Subject in French | Encéphalopathies | en_US |
| Subject in French | Cellules souches pluripotentes induites | en_US |
| DeCS | Síndromes Epilépticas | en_US |
| DeCS | Encefalopatias | en_US |
| DeCS | Células-Tronco Pluripotentes Induzidas | en_US |
