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Article

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

Human cell - 1 Nov 2023

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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 37646972
DOI: 10.1007/s13577-023-00978-4

Genes

CYFIP2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Generation of an induced pluripotent stem cell line from a patient with epileptic encephalopathy caused by the CYFIP2 R87C variant.PMID 37646972Read ↗

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