Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway.

doi:10.1093/hmg/ddt596

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Article

Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway.

Human molecular genetics - 15 Apr 2014

Lojewski Xenia, Staropoli John F, Biswas-Legrand Sunita, Simas Alexandra M, Haliw Larissa, Selig Martin K, Coppel Scott H, Goss Kendrick A, Petcherski Anton, Chandrachud Uma, Sheridan Steven D, Lucente Diane, Sims Katherine B, Gusella James F, Sondhi Dolan, Crystal Ronald G, Reinhardt Peter, Sterneckert Jared, Schöler Hans, Haggarty Stephen J, Storch Alexander, Hermann Andreas, Cotman Susan L

Abstract excerpt

Neuronal ceroid lipofuscinosis (NCL) comprises ∼13 genetically distinct lysosomal disorders primarily affecting the central nervous system. Here we report successful reprograming of patient fibroblasts into induced pluripotent stem cells (iPSCs) for the two most common NCL subtypes: classic late-infantile NCL, caused by TPP1(CLN2) mutation, and juvenile NCL, caused by CLN3 mutation. CLN2/TPP1- and CLN3-iPSCs...

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Identifiers

PMID: 24271013
DOI: 10.1093/hmg/ddt596
PMCID: PMC3959814

Genes

TPP1
NCL
CLN3

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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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