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

Kseniya Perepelina, Aleksandra Kostina, Polina Klauzen, Aleksandr Khudiakov, Martina Rabino, Silvia Crasto, Anna Zlotina, Yulia Fomicheva, Alexey Sergushichev, Mari Oganesian, Alexander Dmitriev, Anna Kostareva, Elisa Di Pasquale, Anna Malashicheva

Результат исследований: Научные публикации в периодических изданияхстатьярецензирование

1 Цитирования (Scopus)

Аннотация

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.

Язык оригиналаанглийский
Номер статьи101895
ЖурналStem Cell Research
Том47
DOI
СостояниеОпубликовано - авг 2020

Предметные области Scopus

  • Биология развития
  • Клеточная биология

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