Evidence map›Paper›PMID 37646972›Full record

ArticleHuman cell2023

Generation of an induced pluripotent stem cell line from a patient with epileptic encephalopathy caused by the CYFIP2 R87C variant.

Isabelle Leticia Zaboroski Silva, Rubens Gomes-Júnior, Evelin Brandão da Silva, Isadora May Vaz, Valderez Ravaglio Jamur, Bruno Solano de Freitas Souza, Patrícia Shigunov

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In one paragraph

Article in Human cell, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Isabelle Leticia Zaboroski SilvaStem Cell Basic Biology Laboratory, Instituto Carlos Chagas, Fiocruz PR, Curitiba, PR, 81310-020, Brazil.
Rubens Gomes-JúniorStem Cell Basic Biology Laboratory, Instituto Carlos Chagas, Fiocruz PR, Curitiba, PR, 81310-020, Brazil.
Evelin Brandão da SilvaStem Cell Basic Biology Laboratory, Instituto Carlos Chagas, Fiocruz PR, Curitiba, PR, 81310-020, Brazil.
Isadora May VazCore for Cell Technology, School of Medicine, Pontifícia Universidade Católica do Paraná, Curitiba, PR, 80215-901, Brazil.
Valderez Ravaglio JamurCore for Cell Technology, School of Medicine, Pontifícia Universidade Católica do Paraná, Curitiba, PR, 80215-901, Brazil.
Bruno Solano de Freitas SouzaGonçalo Moniz Institute, Oswaldo Cruz Foundation (FIOCRUZ), Salvador, 40296-710, Brazil.
Patrícia ShigunovStem Cell Basic Biology Laboratory, Instituto Carlos Chagas, Fiocruz PR, Curitiba, PR, 81310-020, Brazil. patricia.shigunov@fiocruz.br.ORCID http://orcid.org/0000-0001-6443-1529

Funding

Conselho Nacional de Desenvolvimento Científico e Tecnológico PROEP/ICC 442324/2019-7Conselho Nacional de Desenvolvimento Científico e Tecnológico Scholarship
6 · The paper itself

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 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.

Indexed as

Adaptor Proteins, Signal TransducingEpilepsyGenetic VariationInduced Pluripotent Stem CellsSpasms, InfantileCell DifferentiationCell LineCells, CulturedCellular ReprogrammingFemaleHumansAdaptor Proteins, Signal TransducingCYFIP2 variantEpileptic encephalopathyiPSC

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.