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Article

Generation of an isogenic human induced pluripotent stem cell line harbouring a CLDN11 mutation associated with hypomyelinating leukodystrophy.

Stem cell research - 1 Jun 2026

Gjervan Sophia C, Sequiera Glen Lester, Feng Jia, Ozgoren Oguz, Van Belois Katherine, Kersey Braden, Ross Colin, Klein Geltink Ramon, Stockler Sylvia, Pouladi Mahmoud A

Abstract excerpt

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...

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Identifiers

PMID: 41932029
DOI: 10.1016/j.scr.2026.103976

Genes

CLDN11

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Generation of an isogenic human induced pluripotent stem cell line harbouring a CLDN11 mutation associated with hypomyelinating leukodystrophy.PMID 41932029Read ↗

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