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


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

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