Generation of a human induced pluripotent stem cell line ZZUNEUi030-A from a female patient carrying a heterozygous CALM2 (c.395 A > T) mutation
Summary
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. Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Hua C, Sun W, Zhang C, Tian X, Qin X, Dong J, Li X |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Dec;81:103515 |
| PubMed | 39137556 |
| DOI | 10.1016/j.scr.2024.103515 |