TY - JOUR
T1 - Incontinentia pigmenti
T2 - Generation of an IKBKG deficient human iPSC line (KICRi002-A-1) on a 46,XY background using CRISPR/Cas9
AU - Fatima, Ambrin
AU - Schuster, Jens
AU - Akram, Talia
AU - González, Carolina Maya
AU - Sobol, Maria
AU - Hoeber, Jan
AU - Dahl, Niklas
N1 - Funding Information:
We thank prof. Anna Falk for the parental iPSC line KICRi002A. This work was supported by the Swedish Research Council 2015-02424 (to ND), and Hjärnfonden FO2019-0210 (to ND). Image acquisition and flow cytometry were performed at the BioVis Platform and scorecard processing at the Genome centre platform, Science for Life Laboratory at Uppsala University.
Funding Information:
We thank prof. Anna Falk for the parental iPSC line KICRi002A. This work was supported by the Swedish Research Council 2015-02424 (to ND), and Hj?rnfonden FO2019-0210 (to ND). Image acquisition and flow cytometry were performed at the BioVis Platform and scorecard processing at the Genome centre platform, Science for Life Laboratory at Uppsala University.
Publisher Copyright:
© 2020 The Authors
PY - 2020/4
Y1 - 2020/4
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85080036404&partnerID=8YFLogxK
U2 - 10.1016/j.scr.2020.101739
DO - 10.1016/j.scr.2020.101739
M3 - Article
C2 - 32126327
AN - SCOPUS:85080036404
SN - 1873-5061
VL - 44
JO - Stem Cell Research
JF - Stem Cell Research
M1 - 101739
ER -