Establishment of a KCNQ1 homozygous knockout human embryonic stem cell line by episomal vector-based CRISPR/Cas9 system

Abstract

As a member of the voltage-gated potassium ion channels, KCNQ1 plays an important role in heart physiological functions. Numerous mutations in KCNQ1 were identified as primary causes to hereditary long-QT syndrome. To further study the role of KCNQ1 in human cardiac functions, here we generated a homozygous KCNQ1 knockout human embryonic stem cell line (KCNQ1-KO) using episomal vector-based CRISPR/Cas9 system. This generated cell line presented typical stem cells colony morphology, maintained highly pluripotency and normal karyotype, also was able to differentiate into all three germ layers in vivo.