DOAJ Open Access 2025

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

Shiwen Weng Lu Liu Qian Ren Qun Wang Wei Shan

Abstrak

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 the patient were successfully reprogrammed into iPSCs, which maintained a normal karyotype, expressed markers of hPSCs, and demonstrated the ability to differentiate into all three germ layers in vivo. This iPSC line serves as a valuable resource for investigating the pathogenic mechanisms underlying epilepsy.

Topik & Kata Kunci

Biology (General)

Penulis (5)

Shiwen Weng

Lu Liu

Qian Ren

Qun Wang

Wei Shan

Format Sitasi

APA MLA BibTeX

Weng, S., Liu, L., Ren, Q., Wang, Q., Shan, W. (2025). Establishment of a human induced pluripotent stem cell (iPSC) line from a patient harboring a TSC1 gene mutation. https://doi.org/10.1016/j.scr.2025.103749

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Informasi Jurnal

Tahun Terbit: 2025
Sumber Database: DOAJ
DOI: 10.1016/j.scr.2025.103749
Akses: Open Access ✓