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


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

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