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Article

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

Stem cell research - 1 Feb 2024

Ofrim Marisa, Little Daniel, Nazari Mina, Minnis Christopher J, Devine Michael J, Mole Sara E, Gissen Paul, Lorvellec Maëlle

Abstract excerpt

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...

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Identifiers

PMID: 38141358
DOI: 10.1016/j.scr.2023.103291

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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