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 Mar;51:102181 |
| PubMed | 33485185 |
| DOI | 10.1016/j.scr.2021.102181 |