Establishment of induced pluripotent stem cell lines from an ARVC patient carrying a heterozygous variant in LAMA2 gene

Stem cell research

article

Yue Wang¹  Yibing Fang²  Yabo Wang¹  Shutao Xia³  Donghui Zhang³  Qi An¹  Yifei Li⁴  Shuhua Luo¹ 

[1] Department of Cardiovascular Surgery, West China Hospital, Sichuan University Chengdu;Department of Cardiovascular Surgery, The Southwest Hospital of Army Medical University;State Key Laboratory of Biocatalysis and Enzyme Engineering, School of Life Science, Hubei University;Key Laboratory of Birth Defects and Related Diseases of Women and Children of MOE, Department of Pediatrics, West China Second University Hospital, Sichuan University

DOI  :  10.1016/j.scr.2022.102999

学科分类：生理学

来源: Academic Press

【 摘 要 】

Using peripheral blood mononuclear cell (PBMC) reprogramming technology, a human-induced pluripotent stem cell (iPSC) line was produced from a patient who presents classic clinical features of arrhythmogenic right ventricular cardiomyopathy (ARVA) and carries a de novo laminin subunit alpha 2 ( LAMA2 ) heterozygous mutation (NM_000426.3: c.8842G > A, p.G2948S). This mutation was not inherited from his parents, who also present normal cardiac phenotype. This iPSC line demonstrates a normal karyotype. Pluripotency and differentiation capacity has been confirmed in vitro . This cell line can help in efforts to understand the pathogenic mechanism between LAMA2 mutation and ARVC.

【 授权许可】

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