Generation of TSC1 knockout induced pluripotent stem cell (iPSC) line

Wei Shan; Huajun Yang; Qian Ren; Qun Wang; Guipeng An

doi:10.1016/j.scr.2022.102888

Generation of TSC1 knockout induced pluripotent stem cell (iPSC) line

Stem Cell Res. 2022 Oct:64:102888. doi: 10.1016/j.scr.2022.102888. Epub 2022 Aug 5.

Authors

Wei Shan¹, Huajun Yang², Qian Ren³, Qun Wang⁴, Guipeng An⁵

Affiliations

¹ Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing 100070, PR China; National Center for Clinical Medicine of Neurological Diseases, Beijing 10070, PR China. Electronic address: weishanns@gmail.com.
² Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing 100070, PR China; National Center for Clinical Medicine of Neurological Diseases, Beijing 10070, PR China. Electronic address: Huajunyang@163.com.
³ Department of Human Anatomy, Hebei Medical University, Shijiazhuang 050017, PR China; International Cooperation Laboratory of Stem Cell Research, Institute of Medical and Health Science, Hebei Medical University, Shijiazhuang 050017, PR China; Hebei Research Center for Stem Cell Medical Translational Engineering, Shijiazhuang 050017, PR China. Electronic address: renfflnm@126.com.
⁴ Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing 100070, PR China; National Center for Clinical Medicine of Neurological Diseases, Beijing 10070, PR China. Electronic address: wangq@ccmu.edu.cn.
⁵ Key Laboratory of Cardiovascular Remodeling and Function Research, Chinese Ministry of Education, Chinese Ministry of Health and Chinese Academy of Medical Sciences, The State and Shandong Province Joint Key Laboratory of Translational Cardiovascular Medicine, Qilu Hospital of Shandong University, Jinan 100034, PR China; Department of Cardiology, Qilu Hospital of Shandong University, Jinan 100034, PR China. Electronic address: guipengan@hotmail.com.

PMID: 35961105
DOI: 10.1016/j.scr.2022.102888

Abstract

The TSC1 gene is a tumor suppressor gene that encodes for the growth inhibitory protein hamartin. It was founded clinically relevant to tuberous sclerosis complex (TSC) and related epilepsy. Variants in TSC1 resulted in tuberous sclerosis, focal cortical dysplasia (FCD) Type II, pulmonary lymphangioleiomyomatosis and change in everolimus sensitivity. Here, we generated induced pluripotent stem cells (iPSC) from a normal individual by electroporation of peripheral blood mononuclear cells (PBMC), and further generated TSC1-knockout human iPSC line via CRISPR/Cas9 gene editing. The resulting iPSCs had normal karyotype, free of genomically integrated epitomal plasmids, expressed pluripotency markers, and maintained trilineage differentiation potential.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Everolimus
Humans
Induced Pluripotent Stem Cells* / metabolism
Inducible T-Cell Co-Stimulator Protein
Leukocytes, Mononuclear / metabolism
Tuberous Sclerosis Complex 1 Protein / genetics
Tuberous Sclerosis* / genetics
Tuberous Sclerosis* / metabolism
Tuberous Sclerosis* / pathology

Substances

Tuberous Sclerosis Complex 1 Protein
Inducible T-Cell Co-Stimulator Protein
Everolimus

Supplementary concepts

Focal cortical dysplasia of Taylor