[HTML][HTML] Generation of D1-1 TALEN isogenic control cell line from Dravet syndrome patient iPSCs using TALEN-mediated editing of the SCN1A gene
Y Tanaka, T Sone, N Higurashi, T Sakuma, S Suzuki… - Stem Cell Research, 2018 - Elsevier
Stem Cell Research, 2018•Elsevier
Dravet syndrome (DS) is an infantile epileptic encephalopathy mainly caused by de novo
mutations in the SCN1A gene encoding the α1 subunit of the voltage-gated sodium channel
Na v 1.1. As an in vitro model of this disease, we previously generated an induced
pluripotent stem cell (iPSC) line from a patient with DS carrying a c. 4933C> T (p. R1645*)
substitution in SCN1A. Here, we describe developing a genome-edited control cell line from
this DS iPSC line by substituting the point mutation with the wild-type residue. This artificial …
mutations in the SCN1A gene encoding the α1 subunit of the voltage-gated sodium channel
Na v 1.1. As an in vitro model of this disease, we previously generated an induced
pluripotent stem cell (iPSC) line from a patient with DS carrying a c. 4933C> T (p. R1645*)
substitution in SCN1A. Here, we describe developing a genome-edited control cell line from
this DS iPSC line by substituting the point mutation with the wild-type residue. This artificial …
Abstract
Dravet syndrome (DS) is an infantile epileptic encephalopathy mainly caused by de novo mutations in the SCN1A gene encoding the α1 subunit of the voltage-gated sodium channel Nav1.1. As an in vitro model of this disease, we previously generated an induced pluripotent stem cell (iPSC) line from a patient with DS carrying a c.4933C>T (p.R1645*) substitution in SCN1A. Here, we describe developing a genome-edited control cell line from this DS iPSC line by substituting the point mutation with the wild-type residue. This artificial control iPSC line will be a powerful tool for research into the pathology of DS.
Elsevier
以上显示的是最相近的搜索结果。 查看全部搜索结果