Generation of an isogenic human induced pluripotent stem cell line harbouring a CLDN11 mutation associated with hypomyelinating leukodystrophy
Stoploss mutation in CLDN11 were first described as the cause of hypomyelinating leukodystrophy 22 (HLD22). Since then, a novel variant in CLDN11 , namely NM_005602.5:c.564del; p.(Arg189ValfsTer31), has been identified in patients with hypomyelinating leukodystrophy resembling HLD22. To better characterize the functional significance of this novel variant and to study the mechanisms underlying CLDN11 -related HLDs, isogenic human induced pluripotent stem cell lines carrying the c.564del variant were generated on a PGP1 cell line background.
Authors
- Sylvia Stöckler
- Colin J.D. Ross (ORCID: https://orcid.org/0000-0003-1476-7037)
- Oguz K. Ozgoren (ORCID: https://orcid.org/0000-0002-6540-3404)
- R Klein Geltink
- Glen Lester Sequiera (ORCID: https://orcid.org/0000-0002-1351-8699)
- Jia Feng (ORCID: https://orcid.org/0000-0002-8118-3501)
- Mahmoud A. Pouladi (ORCID: https://orcid.org/0000-0002-9030-0976)
- Sophia C. Gjervan (ORCID: https://orcid.org/0009-0003-4342-5164)
- Katherine Van Belois
- Braden Kersey
Institutions
- Vancouver Coastal Health (CA)
- University of British Columbia (CA)
- BC Research (Canada) (CA)
- BC Children's Hospital (CA)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2026-03-01
- DOI
- https://doi.org/10.1016/j.scr.2026.103976
- Primary Topic
- RNA regulation and disease
- Type
- article
- Field-Weighted Citation Impact
- 0.00