Stoploss mutation in CLDN11 were first described as the cause of hypomyelinating leukodystrophy 22 (HLD22). Since then, a novel variant in CLDN11, namely NM₀05602. 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.
Gjervan et al. (Sun,) studied this question.