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Generation of an induced pluripotent stem cell line from a patient with epileptic encephalopathy caused by the CYFIP2 R87C variant.
Silva, Isabelle Leticia Zaboroski; Gomes-Júnior, Rubens; da Silva, Evelin Brandão; Vaz, Isadora May; Jamur, Valderez Ravaglio; de Freitas Souza, Bruno Solano; Shigunov, Patrícia.
Afiliação
  • Silva ILZ; Stem Cell Basic Biology Laboratory, Instituto Carlos Chagas, Fiocruz PR, Curitiba, PR, 81310-020, Brazil.
  • Gomes-Júnior R; Stem Cell Basic Biology Laboratory, Instituto Carlos Chagas, Fiocruz PR, Curitiba, PR, 81310-020, Brazil.
  • da Silva EB; Stem Cell Basic Biology Laboratory, Instituto Carlos Chagas, Fiocruz PR, Curitiba, PR, 81310-020, Brazil.
  • Vaz IM; Core for Cell Technology, School of Medicine, Pontifícia Universidade Católica do Paraná, Curitiba, PR, 80215-901, Brazil.
  • Jamur VR; Core for Cell Technology, School of Medicine, Pontifícia Universidade Católica do Paraná, Curitiba, PR, 80215-901, Brazil.
  • de Freitas Souza BS; Gonçalo Moniz Institute, Oswaldo Cruz Foundation (FIOCRUZ), Salvador, 40296-710, Brazil.
  • Shigunov P; D'Or Institute for Research and Education (IDOR), Salvador, 41253-190, Brazil.
Hum Cell ; 36(6): 2237-2246, 2023 Nov.
Article em En | MEDLINE | ID: mdl-37646972
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 differentiated 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 differentiated into the three germ layers. In further studies, this cell line could be used as model for epileptic encephalopathy disease and drug screening studies.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Hum Cell Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Brasil País de publicação: Japão
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Hum Cell Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Brasil País de publicação: Japão