Format

Send to

Choose Destination
Stem Cell Res. 2019 Aug;39:101509. doi: 10.1016/j.scr.2019.101509. Epub 2019 Jul 24.

Generation of induced pluripotent stem cells (iPSCs) from an infant with catecholaminergic polymorphic ventricular tachycardia carrying the double heterozygous mutations A1855D in RyR2 and Q1362H in SCN10A.

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
Physiological Laboratory, University of Cambridge, Downing Street, Cambridge CB3 0DF, United Kingdom.
4
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 4 month-old boy with catecholaminergic polymorphic ventricular tachycardia carrying the double heterozygous mutations RyR2-A1855D and SCN10A-Q1362H. PBMCs were reprogrammed using non-integrative Sendai viral vectors containing reprogramming factors OCT4, SOX2, KLF4 and C-MYC. The iPSCs were shown to express pluripotent markers, have trilineage differentiation potential, carry RyR2-A1855D and SCN10A-Q1362H mutations and have a normal karyotype. They will be useful for studying the pathogenesis of CPVT patients with ≥2 variants.

PMID:
31382203
DOI:
10.1016/j.scr.2019.101509
Free full text

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center