期刊
STEM CELL RESEARCH
卷 44, 期 -, 页码 -出版社
ELSEVIER
DOI: 10.1016/j.scr.2020.101739
关键词
-
资金
- Swedish Research Council [2015-02424]
- Hjarnfonden [FO2019-0210]
Incontinentia pigmenti (IP) is an X-linked dominant neuroectodermal dysplasia caused by loss-of-function mutations in the IKBKG gene. Using CRISPR/Cas9 technology, we generated an IKBKG knock-out iPSC line (KICRi002-A-1) on a 46,XY background. The iPSC line showed a normal karyotype, expressed pluripotency markers and exhibited capability to differentiate into the three germ layers in vitro. Off-target editing was excluded and no IKBKG mRNA expression could be detected. Our line offers a useful resource to elucidate mechanisms caused by IKBKG deficiency that leads to disrupted male fetal development and for drug screening to improve treatment of female patients with IP.
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