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

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 chara...

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Hlavní autoři:	Sophia C. Gjervan, Glen Lester Sequiera, Jia Feng, Oguz Ozgoren, Katherine Van Belois, Braden Kersey, Colin Ross, Ramon Klein Geltink, Sylvia Stockler, Mahmoud A. Pouladi
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Elsevier 2026-06-01
Edice:	Stem Cell Research
On-line přístup:	http://www.sciencedirect.com/science/article/pii/S1873506126000723
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