Generation of induced pluripotent stem cells (KSCBi009-A) from a patient with Prader-Willi syndrome (PWS) featuring deletion of the paternal chromosome region 15q11.2-q13
Summary
Prader-Willi syndrome (PWS) is a neurodevelopmental disorder caused by the loss of paternally expressed genes in an imprinted region of chromosome 15q11.2-q13. We generated a human-induced pluripotent stem cell line, designated KSCBi009-A, from peripheral blood mononuclear cells of a 13-year-old male PWS patient exhibiting deletion of the paternal chromosome 15q11.2-q13 region. The deletion was confirmed via methylation-specific multiplex ligation probe amplification assay (MS-MLPA) of genomic DNA. The hiPSC line expressed pluripotency markers and differentiated into three germ layers. The cell line may serve as a valuable model of an imprinting PWS disorder useful in terms of drug discovery and development. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Kim BY, Lee JS, Kim YO, Koo SK, Park MH |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2020 Jul;46:101847 |
| PubMed | 32474395 |
| DOI | 10.1016/j.scr.2020.101847 |