Generation of a human induced pluripotent stem cell line from a female patient carrying LZTR1 gene mutation
Summary
The leucine zipper-like transcriptional regulator 1 (LZTR1) gene has been reported to be associated with many kinds of human diseases, including cardiac disease, Noonan syndrome, and schwannomatosis. In this study, peripheral blood mononuclear cells (PBMCs) derived from patient diagnosed with dilated cardiomyopathy (DCM) was successfully reprogrammed into the human induced pluripotent stem cells (iPSCs) line, harboring a distinct heterozygous mutation in the LZTR1 gene. The established patient-derived iPSCs expressed endogenous pluripotent markers, demonstrated the potential to differentiate into three germ layers (endoderm, mesoderm, and ectoderm), and exhibited a normal karyotype. Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Ruan J, Wu M, Xiang J, Hui X, Yang L, Lin R, Xu W, Shu Q |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Dec;81:103616 |
| PubMed | 39577308 |
| DOI | 10.1016/j.scr.2024.103616 |