Generation of human induced pluripotent stem cell line EURACi006-A and its isogenic gene-corrected line EURACi006-A-1 from an arrhythmogenic cardiomyopathy patient carrying the c.1643delG PKP2 mutation

نویسندگان

چکیده

Arrhythmogenic Cardiomyopathy (ACM) is a rare genetic cardiac disease predominantly associated with mutations in genes of the desmosomes and characterized by arrhythmia fibro-fatty replacement myocardium. We generated human induced pluripotent stem cells (hiPSCs) from one patient affected ACM carrying heterozygous c.1643delG (p.G548VfsX15) PKP2 mutation then corrected using CRISPR/Cas9 technology. Both original hiPSC lines showed typical morphology cells, expressed pluripotency markers, displayed normal karyotype, differentiated towards three germ layers. This isogenic pair can be used to study role vitro.

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ژورنال

عنوان ژورنال: Stem Cell Research

سال: 2021

ISSN: ['1876-7753', '1873-5061']

DOI: https://doi.org/10.1016/j.scr.2021.102426