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

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

Stem Cell Research (Oct 2022)

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

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

Affiliations

Wei Shan: 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
Huajun Yang: 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
Qian Ren: 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
Qun Wang: 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
Guipeng An: 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; Corresponding author at: 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.

Journal volume & issue: Vol. 64
p. 102888

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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