Generation of Induced Pluripotent Stem Cell Line FAMRCi012-A from a Patient with Ventricular Fibrillation Carrying Genetic Variant SCN5A p.Ser805Leu

Induced Pluripotent Stem Cell (iPSC) line FAMRCi012-A was generated by reprogramming peripheral blood mononuclear cells (PBMC) of the patient carrying genetic variant of uncertain significance p.Ser805Leu in SCN5A gene. Line FAMRCi012-A was characterized according to common guidelines and showed iPSC properties: typical morphology, normal karyotype (46,XY), expression of markers specific for human pluripotent stem cells (OCT4, NANOG, SSEA4), the ability of differentiation into three germ layers in vitro. The reported iPSC line can be used for discovering the contribution of genetic variant of uncertain significance p.Ser805Leu in SCN5A to development in human heart rhythm disorders.

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Publication Details

Journal
Russian Journal of Developmental Biology
Published
2024-12-01
DOI
https://doi.org/10.1134/s1062360425700043
Citations
1
Primary Topic
Cardiac electrophysiology and arrhythmias
Type
article
Field-Weighted Citation Impact
0.40
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article

Generation of Induced Pluripotent Stem Cell Line FAMRCi012-A from a Patient with Ventricular Fibrillation Carrying Genetic Variant SCN5A p.Ser805Leu

Kseniya Perepelina, Yu. V. Fomicheva, Anna Aleksandrovna Kostareva, Д. С. Лебедев et al.
1 citations
Russian Journal of Developmental Biology
Cardiac electrophysiology and arrhythmias
0.40
article

Generation of Induced Pluripotent Stem Cell Line FAMRCi012-A from a Patient with Ventricular Fibrillation Carrying Genetic Variant SCN5A p.Ser805Leu

Kseniya Perepelina, Yu. V. Fomicheva, Anna Aleksandrovna Kostareva, Д. С. Лебедев, V. V. Garnyuk, Nataliia Rodina, Л. С. Мкртчян, Anna Zlotina, Aleksandr Khudiakov, E. G. Nikitina, E. N. Mikhaylov
article en
1 citations

Abstract

Induced Pluripotent Stem Cell (iPSC) line FAMRCi012-A was generated by reprogramming peripheral blood mononuclear cells (PBMC) of the patient carrying genetic variant of uncertain significance p.Ser805Leu in SCN5A gene. Line FAMRCi012-A was characterized according to common guidelines and showed iPSC properties: typical morphology, normal karyotype (46,XY), expression of markers specific for human pluripotent stem cells (OCT4, NANOG, SSEA4), the ability of differentiation into three germ layers in vitro. The reported iPSC line can be used for discovering the contribution of genetic variant of uncertain significance p.Ser805Leu in SCN5A to development in human heart rhythm disorders.

Russian Journal of Developmental BiologyVol. 55(6)
Federal Almazov North-West Medical Research Centre (RU)
Zero hunger
Openalex Percentile: Top 29%
Cardiac electrophysiology and arrhythmias
0.40
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