Generation of iPSC from peripheral blood mononuclear cells obtained from a patient with TSC2-PKD1 contiguous gene deletion syndrome

Summary

TSC2-PKD1 contiguous gene deletion syndrome is characterized by tuberous sclerosis complex and polycystic kidney disease. We obtained peripheral blood mononuclear cells from a patient with TSC2-PKD1 contiguous gene deletion syndrome. We performed reprogramming using non-integrative episomal vectors to obtain human induced pluripotent stem cells (iPSCs). The obtained iPSCs had a normal karyotype and expressed human ES cell-specific cell surface markers and genes; in teratomas, iPSCs differentiated into derivatives of all three germ layers. The iPSCs can be used to study pathogenesis of TSC2-PKD1 contiguous gene deletion syndrome and serve as a potential therapeutic target. Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Li J, Shang S, Wang T, Fu B, Wang P, Cai G, Chen X, Li Q
Journal Stem cell research
Publication Date 2021 Jan 18;51:102181
PubMed 33485185
DOI 10.1016/j.scr.2021.102181

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