Generation of human induced pluripotent stem cell line, KRIBBi003-A, from urinary cells of a patient with glycogen storage disease type IXa


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 Oct 22;57:102584
PubMed 34740118
DOI 10.1016/j.scr.2021.102584

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