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.

Abstract

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.

• Authors: Hong-Mei Zhou, Xiao-Qian Zhou, Ji-Zhen Lu, Wen-Wen Jia, Jiu-Hong Kang
• Journal: Stem cell research (Stem Cell Res) Vol. 43 Pg. 101731 (03 2020) ISSN: 1876-7753 [Electronic] England
• PMID: 32062134 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Chemical References

• CACNA1C protein, human
• Calcium Channels, L-Type

Topics

• Animals
• Calcium Channels, L-Type (genetics)
• Cell Line
• Child
• Humans
• Induced Pluripotent Stem Cells (metabolism)
• Long QT Syndrome (genetics)
• Male
• Mutation