Generation of three induced pluripotent stem cell (iPSC) lines from a patient with developmental epileptic encephalopathy due to the pathogenic KCNA2 variant c.869T > G; p.Leu290Arg (NUIGi052-A, NUIGi052-B, NUIGi052-C)

被引：3
|
作者：
Arbini, Alessia [1 ]
Gilmore, James [1 ]
King, Mary D. [2 ,3 ]
Gorman, Kathleen M. [2 ,3 ]
Krawczyk, Janusz [4 ]
McInerney, Veronica [5 ]
O'Brien, Timothy [1 ]
Shen, Sanbing [1 ,6 ]
Allen, Nicholas M. [1 ,7 ]
机构：
[1] Natl Univ Ireland Galway, Regenerat Med Inst, Sch Med, Biomed Sci Bldg BMS 1021, Dangan, Ireland
[2] Temple St Childrens Univ Hosp, Childrens Hlth Ireland, Dept Paediat Neurol & Clin Neurophysiol, Dublin 1, Ireland
[3] Univ Coll Dublin, Sch Med & Med Sci, Dublin, Ireland
[4] Galway Univ Hosp, Dept Haematol, Galway, Ireland
[5] Natl Univ Ireland Galway, HRB Clin Res Facil, Dangan, Ireland
[6] Royal Coll Surgeons Ireland, FutureNeuro Res Ctr, D02, Dublin, Ireland
[7] Natl Univ Ireland Galway, Sch Med, Dept Paediat, Dangan, Ireland
来源：
STEM CELL RESEARCH | 2020年 / 46卷
关键词：
D O I：
10.1016/j.scr.2020.101853
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
De novo pathogenic variants in KCNA2 are implicated in causing a spectrum of human neurological disorders, in particular developmental and epileptic encephalopathies. KCNA2 encodes the voltage-gated delayed rectifier potassium channel Kv1.2, which is vital in regulating neuronal membrane potential and repolarization. In this study, we generated three iPSC lines with non-integrating Sendai viral vectors from dermal fibroblasts of an 11-year old female patient harboring the KCNA2 c.869T > G (p.Leu290Arg) pathogenic variant. The iPSC lines were validated with standardized procedures including the targeted mutation, free of transgene integration, SNP karyotyping, pluripotent gene expression, and differentiation capacity into three embryonic germ layers.
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页数：5
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