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Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Autosomal Recessive Osteopetrosis due to mutations in TCIRG1 gene.

Stem cell research - 1 Jan 2020

Lanzi Gaetana, Ferraro Rosalba Monica, Masneri Stefania, Piovani Giovanna, Barisani Chiara, Sobacchi Cristina, Villa Anna, Vezzoni Paolo, Giliani Silvia

Abstract excerpt

Autosomal recessive osteopetrosis (ARO) is a rare inherited disorder leading to increased bone density with impairment in bone resorption. Among the genes responsible for ARO, the TCIRG1 gene, coding for the a3 subunit of the osteoclast proton pump, is mutated in more than 50% of the cases, increasing the importance of TCIRG1-iPSCs as disease model. We generated 3 iPSC clones derived from Peripheral Blood...

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PMID: 31794943
DOI: 10.1016/j.scr.2019.101660

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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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