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Article

Establishment of a human induced pluripotent stem cell (iPSC) line from a patient harboring a TSC1 gene mutation.

Stem cell research - 1 Sept 2025

Weng Shiwen, Liu Lu, Ren Qian, Wang Qun, Shan Wei

Abstract excerpt

The tuberous sclerosis complex 1 (TSC1) gene encodes for the growth inhibitory protein, hamartin, and has been clinically implicated in tuberous sclerosis complex (TSC) and associated epilepsy. In this study, we present an induced pluripotent stem cell (iPSC) line derived from a patient with epilepsy and tuberous sclerosis, carrying the TSC1 c.2626-2(IVS20) A > G variant. Peripheral blood mononuclear cells from...

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Identifiers

PMID: 40516146
DOI: 10.1016/j.scr.2025.103749

Genes

TSC1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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