{"entity": "publication", "iuid": "46a42583b81a4b28a57db354c7d15095", "timestamp": "2026-08-26T22:48:11.944Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/46a42583b81a4b28a57db354c7d15095.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/46a42583b81a4b28a57db354c7d15095"}}, "title": "Incontinentia pigmenti: Generation of an IKBKG deficient human iPSC line (KICRi002-A-1) on a 46,XY background using CRISPR/Cas9.", "authors": [{"family": "Fatima", "given": "Ambrin", "initials": "A"}, {"family": "Schuster", "given": "Jens", "initials": "J"}, {"family": "Akram", "given": "Talia", "initials": "T"}, {"family": "Gonz\u00e1lez", "given": "Carolina Maya", "initials": "CM"}, {"family": "Sobol", "given": "Maria", "initials": "M"}, {"family": "Hoeber", "given": "Jan", "initials": "J"}, {"family": "Dahl", "given": "Niklas", "initials": "N"}], "type": "journal article", "published": "2020-04-00", "journal": {"title": "Stem Cell Res", "issn": "1876-7753", "volume": "44", "pages": "101739", "issn-l": "1873-5061"}, "abstract": "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.", "doi": "10.1016/j.scr.2020.101739", "pmid": "32126327", "labels": [], "xrefs": [{"db": "pii", "key": "S1873-5061(20)30043-X"}], "notes": [], "created": "2026-08-21T11:28:42.458Z", "modified": "2026-08-21T11:28:42.485Z"}