Generation of a human induced pluripotent stem cell line ZZUNEUi030-A from a female patient carrying a heterozygous CALM2 (c.395 A > T) mutation

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2024-08-12 DOI:10.1016/j.scr.2024.103515

Chongpei Hua , Wenrui Sun , Chunjin Zhang , Xiaoxu Tian , Xintong Qin , Jianzeng Dong , Xiaowei Li

引用次数: 0

Abstract

Calmodulin mutations can cause life-threatening long QT syndrome involving CALM1, CALM2, and CALM3. In this study, human induced pluripotent stem cells ZZUNEUi030-A were derived from a female patient with heterozygous CALM2 gene c. 395A → T by Sendai virus non-integrated reprogramming technology. The cell line showed a normal female karyotype (46, XX), expressed pluripotency markers, and had the ability to differentiate into three germ layers in vitro. ZZUNEUi030-A can be used as a cell disease model to study the pathogenesis of LQT caused by calmodulin mutations.

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从一名携带杂合子 CALM2（c.395 A > T）突变的女性患者体内生成人类诱导多能干细胞系 ZZUNEUi030-A

钙调蛋白突变可导致危及生命的长 QT 综合征，涉及 CALM1、CALM2 和 CALM3。本研究采用仙台病毒非整合重编程技术，从一名CALM2基因c. 395A → T杂合子女性患者身上获得了人类诱导多能干细胞ZZUNEUi030-A。该细胞系显示出正常女性核型（46，XX），表达多能性标记，并能在体外分化成三个生殖层。ZZUNEUi030-A可作为细胞疾病模型，用于研究钙调蛋白突变导致的LQT的发病机制。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Stem cell research 生物-生物工程与应用微生物

CiteScore

2.20

自引率

8.30%

发文量

338

审稿时长

55 days

期刊介绍： Stem Cell Research is dedicated to publishing high-quality manuscripts focusing on the biology and applications of stem cell research. Submissions to Stem Cell Research, may cover all aspects of stem cells, including embryonic stem cells, tissue-specific stem cells, cancer stem cells, developmental studies, stem cell genomes, and translational research. Stem Cell Research publishes 6 issues a year.