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Stem Cell Res. 2019 Nov 20;42:101660. doi: 10.1016/j.scr.2019.101660. [Epub ahead of print]

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

Author information

1
A. Nocivelli Institute for Molecular Medicine, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy. Electronic address: g_lanzi@hotmail.com.
2
A. Nocivelli Institute for Molecular Medicine, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.
3
Biology and Genetics Division, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
4
Humanitas Clinical and Research Institute, Rozzano, Italy; National Research Council-Institute of Genetics and Biomedical Research (CNR-IRGB), Milan Unit, Milan, Italy.

Abstract

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 Mononuclear Cells (PBMCs) of a patient carrying the heterozygous mutations p.Y512X and c.2236 + 1G > A. A Sendai virus-based vector was used and the iPSCs were characterized for genetic identity to parental cells, genomic integrity, pluripotency, and differentiation ability.

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