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

Stem Cell Research (Dec 2024)

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

Affiliations

Jinghua Ruan: 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; Corresponding author at: Department of Cardiac Surgery, the Children’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, Zhejiang, China.
Mengqing Wu: School of Basic Medical Sciences and Forensic Medicine, Hangzhou Medical College, Hangzhou, Zhejiang, China
Jiakai Xiang: Department of Cardiac Surgery, the Children’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, Zhejiang, China
Xianrui Hui: Binjiang Institute of Zhejiang University, Hangzhou, Zhejiang, China
Lijun Yang: Department of Cardiac Surgery, the Children’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, Zhejiang, China
Ru Lin: 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
Weize Xu: 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
Qiang Shu: 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; Corresponding author at: Department of Cardiac Surgery, the Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, Zhejiang, China.

Journal volume & issue: Vol. 81
p. 103616

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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