An induced pluripotent stem cell line (SHEHi002-A (5426))from a patient of long QT syndrome type 8 with c.2573G>A mutation in the gene CACNA1C
Summary
Long QT syndrome type 8 is an uncommon inherited condition .An induced pluripotent stem cell (iPSC) line was generated from Peripheral blood mononuclear cells (PBMCs) of a 10-year-old patient with heterozygous mutation of p.R858H(c.2573G > A)in the CACNA1C gene. This iPSC model offers a very valuable resource to study the disease pathophysiology and to develop therapeutics for treatment of Long QT syndrome type 8 patients. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Zhou HM, Zhou XQ, Lu JZ, Jia WW, Kang JH |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2020 Mar;43:101731 |
| PubMed | 32062134 |
| DOI | 10.1016/j.scr.2020.101731 |