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

Autor: Yanmin Zhang, Anmao Li, Jie Wang, Guoxia Wang, Danying Wang
Jazyk: angličtina
Rok vydání: 2019
Předmět:
Zdroj: Stem Cell Research, Vol 41, Iss , Pp - (2019)
Druh dokumentu: article
ISSN: 1873-5061
DOI: 10.1016/j.scr.2019.101621
Popis: 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.
Databáze: Directory of Open Access Journals