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Article

Generation of gene-corrected functional osteoclasts from osteopetrotic induced pluripotent stem cells.

Stem cell research & therapy - 15 May 2020

Xian Xiaojie, Moraghebi Roksana, Löfvall Henrik, Fasth Anders, Henriksen Kim, Richter Johan, Woods Niels-Bjarne, Moscatelli Ilana

Abstract excerpt

BACKGROUND: Infantile malignant osteopetrosis (IMO) is an autosomal recessive disorder characterized by non-functional osteoclasts and a fatal outcome early in childhood. About 50% of patients have mutations in the TCIRG1 gene. METHODS: IMO iPSCs were generated from a patient carrying a homozygous c.11279G>A (IVS18+1) mutation in TCIRG1 and transduced with a lentiviral vector expressing human TCIRG1. Embryoid...

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Identifiers

PMID: 32414402
DOI: 10.1186/s13287-020-01701-y
PMCID: PMC7227215

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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