Back to Search Start Over

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

Authors :
Marisa Ofrim
Daniel Little
Mina Nazari
Christopher J. Minnis
Michael J. Devine
Sara E. Mole
Paul Gissen
Maëlle Lorvellec
Source :
Stem Cell Research, Vol 74, Iss , Pp 103291- (2024)
Publication Year :
2024
Publisher :
Elsevier, 2024.

Abstract

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.

Subjects

Subjects :
Biology (General)
QH301-705.5

Details

Language :
English
ISSN :
18735061
Volume :
74
Issue :
103291-
Database :
Directory of Open Access Journals
Journal :
Stem Cell Research
Publication Type :
Academic Journal
Accession number :
edsdoj.01c66734eac4429ab9d201155c5d0f0
Document Type :
article
Full Text :
https://doi.org/10.1016/j.scr.2023.103291