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Generation of three induced pluripotent stem cell lines, SCVIi003-A, SCVIi004-A, SCVIi005-A, from patients with ARVD/C caused by heterozygous mutations in the PKP2 gene

Authors :
James W.S. Jahng
Katelyn E. Black
Lichao Liu
Hye Ryeong Bae
Marco Perez
Euan A. Ashley
Karim Sallam
Joseph C. Wu
Source :
Stem Cell Research, Vol 53, Iss , Pp 102284- (2021)
Publication Year :
2021
Publisher :
Elsevier, 2021.

Abstract

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited heart disease which can cause life-threatening ventricular arrhythmias and cardiac dysfunction. The autosomal dominant form of ARVD/C is caused by mutations in the cardiac desmosome, such as those in the plakoglobin plakophilin-2 (PKP2) gene. Here, we generated three human induced pluripotent stem cell (iPSC) lines from the peripheral blood mononuclear cells (PBMCs) of three ARVD/C patients carrying pathogenic variants in their PKP2 genes (c.2065_2070delinsG; c.235C>T; c.1725_1728dup). All lines show the typical morphology of pluripotent stem cells, demonstrate high expression of pluripotent markers, display normal karyotype, and differentiate into all three germ layers in vitro. These lines are valuable resources for studying the pathological mechanisms of ARVD/C caused by PKP2 mutation.

Subjects

Subjects :
Biology (General)
QH301-705.5

Details

Language :
English
ISSN :
18735061
Volume :
53
Issue :
102284-
Database :
Directory of Open Access Journals
Journal :
Stem Cell Research
Publication Type :
Academic Journal
Accession number :
edsdoj.702a30b9a42f4ef7ab9f9ca919b6d417
Document Type :
article
Full Text :
https://doi.org/10.1016/j.scr.2021.102284