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

Authors :
Oguz K. Ozgoren
Glen Lester Sequiera
Costanza Ferrari Bardile
Sophia C. Gjervan
Areesha Salman
Anna Lehman
Stuart E. Turvey
Colin J.D. Ross
Sylvia Stockler
Mahmoud A. Pouladi
Source :
Stem Cell Research, Vol 71, Iss , Pp 103174- (2023)
Publication Year :
2023
Publisher :
Elsevier, 2023.

Abstract

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.

Subjects

Subjects :
Biology (General)
QH301-705.5

Details

Language :
English
ISSN :
18735061 and 28363744
Volume :
71
Issue :
103174-
Database :
Directory of Open Access Journals
Journal :
Stem Cell Research
Publication Type :
Academic Journal
Accession number :
edsdoj.28363744664b88907f8eb810119337
Document Type :
article
Full Text :
https://doi.org/10.1016/j.scr.2023.103174