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Generation of induced pluripotent stem cells (ARO-iPSC1-11) from a patient with autosomal recessive osteopetrosis harboring the c.212+1G>T mutation in SNX10 gene.

Stem cell research - 1 Oct 2017

Xu Maojia, Stattin Eva-Lena, Murphy Mary, Barry Frank

Abstract excerpt

Pathogenic sequence variants in the Sorting Nexin 10 (SNX10) gene have been associated with autosomal recessive osteopetrosis (ARO) in human. In this study, an induced pluripotent stem cell (iPSC) line (ARO-iPSC1-11) was generated from an ARO patient carrying the homozygous c.212+1G>T mutation in SNX10, using a retroviral-based reprogramming protocol. Characterization confirmed that the generated iPSCs expressed...

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Identifiers

PMID: 29034896
DOI: 10.1016/j.scr.2017.07.024

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SNX10

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