Abstract
The ASS1 gene encodes argininosuccinate synthetase-1, a cytosolic enzyme with a critical role in the urea cycle. Mutations are found in all ASS1 exons and cause the autosomal recessive disorder citrullinemia. Using CRISPR/Cas9-editing, we established the WAe001-A-13 cell line, which was heterozygous for an ASS1 mutation, from the human embryonic stem cell line H1. The WAe001-A-13 cell line maintained the pluripotent phenotype, the ability to differentiate into all three germ layers and a normal karyotype.
Original language | English |
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Pages (from-to) | 67-71 |
Number of pages | 5 |
Journal | Stem Cell Research |
Volume | 26 |
DOIs | |
Publication status | Published - Jan 2018 |
Externally published | Yes |