Generation of human induced pluripotent stem cell line, KRIBBi003-A, from urinary cells of a patient with glycogen storage disease type IXa
Summary
Glycogen storage disease type IXa (GSD IXa) is a rare genetic disorder characterized by phosphorylase kinase (PhK) deficiency, which leads to excessive glycogen accumulation in the liver. Urinary cells (UCs) were isolated from a GSD IXa patient and reprogrammed into induced pluripotent stem cells (iPSCs) using Sendai virus. The established iPSC line, KRIBBi003-A, exhibited pluripotency marker expression and a normal karyotype. The differentiation capacity of the cell line was confirmed by the differentiation of the three germ layers in vitro. The established iPSC line is a potential useful resource for disease modeling of GSD IXa. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Shin Y, Mun SJ, Lee J, Chung KS, Kim M, Kun Cheon C, Son MJ |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2021 Dec;57:102584 |
| PubMed | 34740118 |
| DOI | 10.1016/j.scr.2021.102584 |