Characterization of two human induced pluripotent stem cell lines derived from Batten disease patient fibroblasts harbouring CLN5 mutations


The neuronal ceroid lipofuscinoses (NCLs) are a group of common inherited neurodegenerative disorders of childhood. All forms of NCLs are life-limiting with no curative treatments. Most of the 13 NCL genes encode proteins residing in endolysosomal pathways, such as CLN5, a potential lysosomal enzyme. Two induced pluripotent stem cell lines (hiPSCs) were generated from skin fibroblasts of CLN5 disease patients via non-integrating Sendai virus reprogramming. They demonstrate typical stem cell morphology, express pluripotency markers, exhibit trilineage differentiation potential and also successfully differentiate into neurons. These hiPSCs represent a potential resource to model CLN5 disease in a human context and investigate potential therapies. Copyright © 2023. Published by Elsevier B.V.

Authors Ofrim M, Little D, Nazari M, Minnis CJ, Devine MJ, Mole SE, Gissen P, Lorvellec M
Journal Stem cell research
Publication Date 2024 Feb;74:103291
PubMed 38141358
DOI 10.1016/j.scr.2023.103291

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