Stem Cell Res. 2019 Oct 25;41:101621. doi: 10.1016/j.scr.2019.101621. [Epub ahead of print]

Generation of induced pluripotent stem cells (iPSCs) from an infant with Pompe disease carrying with compound mutations of R608X and E888X in GAA gene.

Zhang Y¹, Li A², Wang J², Wang G², Wang D³.

Author information

1: Children's Research Institute of Shaanxi Province, China; Xi'an Key Laboratory of Children's Health and Diseases, China; Department of Cardiology, Affiliate Children's Hospital of Xi'an Jiaotong University, Xi'an 710003, China. Electronic address: ymzh628@126.com.
2: Children's Research Institute of Shaanxi Province, China; Xi'an Key Laboratory of Children's Health and Diseases, China.
3: Xi'an Medicine University, Xi'an 710021, China.

Abstract

Induced pluripotent stem cells (iPSCs) were generated from peripheral blood mononuclear cells (PBMCs) isolated from the peripheral blood of a five months-old boy with glycogen storage disease type II(GSD II, also known as Pompe disease, PD) carries compound mutations R608X E888X in GAA gene. PBMCs were reprogrammed using non-integrative Sendai viral vectors containing reprogramming factors OCT4, SOX2, KLF4 and C-MYC. iPSCs were shown to express pluripotent markers, have trilineage differentiation potential, carry GAA-R608X and GAA-E888X compound mutations, have a normal karyotype. It is useful tool for studying GSDII.