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


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. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Wang Y, Fang Y, Wang Y, Xia S, Zhang D, An Q, Li Y, Luo S
Journal Stem cell research
Publication Date 2023 Feb;66:102999
PubMed 36535090
DOI 10.1016/j.scr.2022.102999

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