Generation of a human induced pluripotent stem cell line from a female patient carrying LZTR1 gene mutation

Jinghua Ruan; Mengqing Wu; Jiakai Xiang; Xianrui Hui; Lijun Yang; Ru Lin; Weize Xu; Qiang Shu

doi:10.1016/j.scr.2024.103616

Generation of a human induced pluripotent stem cell line from a female patient carrying LZTR1 gene mutation

Stem Cell Res. 2024 Dec:81:103616. doi: 10.1016/j.scr.2024.103616. Epub 2024 Nov 19.

Authors

Jinghua Ruan¹, Mengqing Wu², Jiakai Xiang³, Xianrui Hui⁴, Lijun Yang³, Ru Lin⁵, Weize Xu⁶, Qiang Shu⁷

Affiliations

¹ Department of Cardiac Surgery, the Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, Zhejiang, China; Binjiang Institute of Zhejiang University, Hangzhou, Zhejiang, China. Electronic address: [email protected].
² School of Basic Medical Sciences and Forensic Medicine, Hangzhou Medical College, Hangzhou, Zhejiang, China.
³ Department of Cardiac Surgery, the Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, Zhejiang, China.
⁴ Binjiang Institute of Zhejiang University, Hangzhou, Zhejiang, China.
⁵ Department of Cardiac Surgery, the Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, Zhejiang, China; Binjiang Institute of Zhejiang University, Hangzhou, Zhejiang, China.
⁶ Department of Cardiac Surgery, the Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, Zhejiang, China; Binjiang Institute of Zhejiang University, Hangzhou, Zhejiang, China; School of Basic Medical Sciences and Forensic Medicine, Hangzhou Medical College, Hangzhou, Zhejiang, China.
⁷ Department of Cardiac Surgery, the Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, Zhejiang, China; Binjiang Institute of Zhejiang University, Hangzhou, Zhejiang, China; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. Electronic address: [email protected].

PMID: 39577308
DOI: 10.1016/j.scr.2024.103616

Abstract

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.

MeSH terms

Cardiomyopathy, Dilated / genetics
Cardiomyopathy, Dilated / pathology
Cell Differentiation
Cell Line
Female
Humans
Induced Pluripotent Stem Cells* / metabolism
Mutation*
Transcription Factors* / genetics
Transcription Factors* / metabolism

Substances

Transcription Factors
LZTR1 protein, human