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Article

Targeted Gene Correction in Osteopetrotic-Induced Pluripotent Stem Cells for the Generation of Functional Osteoclasts.

Stem cell reports - 13 Oct 2015

Neri Tui, Muggeo Sharon, Paulis Marianna, Caldana Maria Elena, Crisafulli Laura, Strina Dario, Focarelli Maria Luisa, Faggioli Francesca, Recordati Camilla, Scaramuzza Samantha, Scanziani Eugenio, Mantero Stefano, Buracchi Chiara, Sobacchi Cristina, Lombardo Angelo, Naldini Luigi, Vezzoni Paolo, Villa Anna, Ficara Francesca

Abstract excerpt

Autosomal recessive osteopetrosis is a human bone disease mainly caused by TCIRG1 gene mutations that prevent osteoclasts resorbing activity, recapitulated by the oc/oc mouse model. Bone marrow transplantation is the only available treatment, limited by the need for a matched donor. The use of induced pluripotent stem cells (iPSCs) as an unlimited source of autologous cells to generate gene corrected osteoclasts...

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Source

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Identifiers

PMID: 26344905
DOI: 10.1016/j.stemcr.2015.08.005
PMCID: PMC4624934

Genes

TCIRG1

Provenance

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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Targeted Gene Correction in Osteopetrotic-Induced Pluripotent Stem Cells for the Generation of Functional Osteoclasts.PMID 26344905Read ↗

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Committed osteoclast precursors colonize the bone and improve the phenotype of a mouse model of autosomal recessive osteopetrosis.Semantic proximity Read ↗

Osteopetrosis: Pathogenesis, Clinical Management, and Emerging Therapies.Semantic proximity Read ↗

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Osteoclast rich osteopetrosis due to defects in the TCIRG1 gene.Semantic proximity Read ↗

Novel mutations of TCIRG1 cause a malignant and mild phenotype of autosomal recessive osteopetrosis (ARO) in four Chinese families.Semantic proximity Read ↗

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