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Generation of two induced pluripotent stem cell (iPSC) lines (BBANTWi006-A, BBANTWi007-A) from Brugada syndrome patients carrying an SCN5A mutation
被引:5
|作者:
Simons, Eline
[1
,2
]
Nijak, Aleksandra
[1
,2
]
Loeys, Bart
[1
,2
]
Alaerts, Maaike
[1
,2
]
机构:
[1] Univ Antwerp, Cardiogenet Res Grp, Ctr Med Genet, Antwerp, Belgium
[2] Antwerp Univ Hosp, Antwerp, Belgium
关键词:
D O I:
10.1016/j.scr.2022.102719
中图分类号:
Q813 [细胞工程];
学科分类号:
摘要:
Brugada syndrome (BrS) is an inherited primary electrical disorder of the heart. 25% of BrS patients carry a mutation in the SCN5A gene, encoding the cardiac specific voltage-gated sodium channel Nav1.5. Here we report two iPSC lines (BBANTWi006-A, BBANTWi007-A) of a brother and a sister carrying an SCN5A mutation (c.4813 + 3_4813 + 6dupGGGT) causing BrS. iPSCs were generated from dermal fibroblasts and reprogrammed with the Cytotune (R)-iPS 2.0 Sendai Reprogramming Kit (Invitrogen). The generated iPSCs showed a normal karyotype, expressed pluripotency markers, were differentiated into cells of the three germ layers and carried the original genotype.
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页数:4
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