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 |
|---|---|
| Pages (from-to) | 67-71 |
| Number of pages | 5 |
| Journal | Stem Cell Research |
| Volume | 26 |
| DOIs | |
| Publication status | Published - Jan 2018 |
| Externally published | Yes |