Generation of an isogenic human induced pluripotent stem cell line harbouring a CLDN11 mutation associated with
Sophia C Gjervan1, Glen Lester Sequiera1, Jia Feng1
1Department of Medical Genetics, Centre for Molecular Medicine and Therapeutics, Djavad Mowafaghian Centre for Brain Health, University of British Columbia, Vancouver, Canada; Edwin S.H. Leong Centre for Healthy Aging, University of British Columbia, Vancouver, BC, Canada; British Columbia Children's Hospital Research Institute, Vancouver, BC, Canada.
Abstract:
Stoploss mutations 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.
