Generation of a human induced pluripotent stem cell line from a patient with hypomyelinating leukodystrophy 22 (HLD22)

Hypomyelinating Leukodystrophy 22 (HLD22) is caused by a stoploss mutation in CLDN11. To study the molecular mechanisms underlying HLD22, human induced pluripotent stem cells (hiPSCs) were generated from patient fibroblasts carrying the stop-loss mutation in CLDN11.

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Bibliographic Details
Published in:Stem cell research 2023-09, Vol.71, p.103174-103174, Article 103174
Main Authors: Ozgoren, Oguz K., Sequiera, Glen Lester, Bardile, Costanza Ferrari, Gjervan, Sophia, Salman, Areesha, Lehman, Anna, Turvey, Stuart, Ross, Colin, Stockler, Sylvia, Pouladi, Mahmoud A.
Format: Article
Language:English
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Summary:Hypomyelinating Leukodystrophy 22 (HLD22) is caused by a stoploss mutation in CLDN11. To study the molecular mechanisms underlying HLD22, human induced pluripotent stem cells (hiPSCs) were generated from patient fibroblasts carrying the stop-loss mutation in CLDN11.
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2023.103174