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Article

Induced Pluripotent Stem Cells Derived from a CLN5 Patient Manifest Phenotypic Characteristics of Neuronal Ceroid Lipofuscinoses.

International journal of molecular sciences - 1 May 2017

Uusi-Rauva Kristiina, Blom Tea, von Schantz-Fant Carina, Blom Tomas, Jalanko Anu, Kyttälä Aija

Abstract excerpt

Neuronal ceroid lipofuscinoses (NCLs) are autosomal recessive progressive encephalopathies caused by mutations in at least 14 different genes. Despite extensive studies performed in different NCL animal models, the molecular mechanisms underlying neurodegeneration in NCLs remain poorly understood. To model NCL in human cells, we generated induced pluripotent stem cells (iPSCs) by reprogramming skin fibroblasts...

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Source

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Identifiers

PMID: 28468312
DOI: 10.3390/ijms18050955
PMCID: PMC5454868

Genes

CLN5
NCL

Variants

Provenance

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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