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Generation of two iPSC lines (FAMRCi007-A and FAMRCi007-B) from patient with Emery-Dreifuss muscular dystrophy and heart rhythm abnormalities carrying genetic variant LMNA p.Arg249Gln

Academic Article
Publication Date:
2020
abstract:
Human iPSC lines were generated from peripheral blood mononuclear cells of patient carrying LMNA mutation associated with Emery-Dreifuss muscular dystrophy accompanied by atrioventricular block and paroxysmal atrial fibrillation. Reprogramming factors OCT4, KLF4, SOX2, CMYC were delivered using Sendai virus transduction. iPSCs were characterized in order to prove the pluripotency markers expression, normal karyotype, ability to differentiate into three embryonic germ layers. Generated iPSC lines would be useful model to investigate disease development associated with genetic variants in LMNA gene.
Iris type:
01.01 Articolo in rivista
Keywords:
iPSC cells; Lamin A/C
List of contributors:
DI PASQUALE, Elisa
Authors of the University:
DI PASQUALE ELISA
Handle:
https://iris.cnr.it/handle/20.500.14243/427786
Published in:
STEM CELL RESEARCH (AMSTERDAM. PRINT)
Journal
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http://www.scopus.com/record/display.url?eid=2-s2.0-85087702250&origin=inward
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