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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.

Stem cell research - 1 Mar 2020

Zhou Hong-Mei, Zhou Xiao-Qian, Lu Ji-Zhen, Jia Wen-Wen, Kang Jiu-Hong

Abstract excerpt

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...

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Identifiers

PMID: 32062134
DOI: 10.1016/j.scr.2020.101731

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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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.PMID 32062134Read ↗

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