Incontinentia pigmenti: Generation of an IKBKG deficient human iPSC line (KICRi002-A-1) on a 46,XY background using CRISPR/Cas9.

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Fatima A, Schuster J, Akram T, González CM, Sobol M, Hoeber J, Dahl N

Stem Cell Res 44 (-) 101739 [2020-04-00; online 2020-02-20]

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.

PubMed 32126327

DOI 10.1016/j.scr.2020.101739

Crossref 10.1016/j.scr.2020.101739

pii: S1873-5061(20)30043-X