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

Publication date: Available online 20 February 2020Source: Stem Cell ResearchAuthor(s): Ambrin Fatima, Jens Schuster, Talia Akram, Carolina Maya González, Maria Sobol, Jan Hoeber, Niklas DahlAbstractIncontinentia 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.
Source: Stem Cell Research - Category: Stem Cells Source Type: research