Incontinentia pigmenti: Generation of an IKBKG deficient human iPSC line (KICRi002-A-1) on a 46,XY background using CRISPR/Cas9
Summary
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. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Fatima A, Schuster J, Akram T, González CM, Sobol M, Hoeber J, Dahl N |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2020 Apr;44:101739 |
| PubMed | 32126327 |
| DOI | 10.1016/j.scr.2020.101739 |