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Using Human Induced Pluripotent Stem Cells for the Generation of Tumor Antigen-specific T Cells
Published on: October 24, 2019
Establishment of a human induced pluripotent stem cell (iPSC) line from a patient harboring a TSC1 gene mutation
Shiwen Weng1, Lu Liu2, Qian Ren3
1Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing 100070, PR China; National Center for Clinical Medicine of Neurological Diseases, Beijing 10070, PR China.
Abstract:
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.
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