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...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-02-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506122003488 |
| Summary: | 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. |
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| ISSN: | 1873-5061 |