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

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, increasi...

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Main Authors:	Gaetana Lanzi, Rosalba Monica Ferraro, Stefania Masneri, Giovanna Piovani, Chiara Barisani, Cristina Sobacchi, Anna Villa, Paolo Vezzoni, Silvia Giliani
Format:	Article
Language:	English
Published:	Elsevier 2020-01-01
Series:	Stem Cell Research
Online Access:	http://www.sciencedirect.com/science/article/pii/S1873506119302909

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spelling	doaj-75dc4a791c1a4a38a302ed744b9da98d2020-11-24T21:31:51ZengElsevierStem Cell Research1873-50612020-01-0142Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Autosomal Recessive Osteopetrosis due to mutations in TCIRG1 gene.Gaetana Lanzi0Rosalba Monica Ferraro1Stefania Masneri2Giovanna Piovani3Chiara Barisani4Cristina Sobacchi5Anna Villa6Paolo Vezzoni7Silvia Giliani8A. Nocivelli Institute for Molecular Medicine, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy; Corresponding author.A. Nocivelli Institute for Molecular Medicine, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, ItalyA. Nocivelli Institute for Molecular Medicine, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, ItalyBiology and Genetics Division, Department of Molecular and Translational Medicine, University of Brescia, Brescia, ItalyA. Nocivelli Institute for Molecular Medicine, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, ItalyHumanitas Clinical and Research Institute, Rozzano, Italy; National Research Council-Institute of Genetics and Biomedical Research (CNR-IRGB), Milan Unit, Milan, ItalyHumanitas Clinical and Research Institute, Rozzano, Italy; National Research Council-Institute of Genetics and Biomedical Research (CNR-IRGB), Milan Unit, Milan, ItalyHumanitas Clinical and Research Institute, Rozzano, Italy; National Research Council-Institute of Genetics and Biomedical Research (CNR-IRGB), Milan Unit, Milan, ItalyA. Nocivelli Institute for Molecular Medicine, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, ItalyAutosomal 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.http://www.sciencedirect.com/science/article/pii/S1873506119302909
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Gaetana Lanzi Rosalba Monica Ferraro Stefania Masneri Giovanna Piovani Chiara Barisani Cristina Sobacchi Anna Villa Paolo Vezzoni Silvia Giliani
spellingShingle	Gaetana Lanzi Rosalba Monica Ferraro Stefania Masneri Giovanna Piovani Chiara Barisani Cristina Sobacchi Anna Villa Paolo Vezzoni Silvia Giliani 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
author_facet	Gaetana Lanzi Rosalba Monica Ferraro Stefania Masneri Giovanna Piovani Chiara Barisani Cristina Sobacchi Anna Villa Paolo Vezzoni Silvia Giliani
author_sort	Gaetana Lanzi
title	Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Autosomal Recessive Osteopetrosis due to mutations in TCIRG1 gene.
title_short	Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Autosomal Recessive Osteopetrosis due to mutations in TCIRG1 gene.
title_full	Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Autosomal Recessive Osteopetrosis due to mutations in TCIRG1 gene.
title_fullStr	Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Autosomal Recessive Osteopetrosis due to mutations in TCIRG1 gene.
title_full_unstemmed	Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Autosomal Recessive Osteopetrosis due to mutations in TCIRG1 gene.
title_sort	generation of 3 clones of induced pluripotent stem cells (ipscs) from a patient affected by autosomal recessive osteopetrosis due to mutations in tcirg1 gene.
publisher	Elsevier
series	Stem Cell Research
issn	1873-5061
publishDate	2020-01-01
description	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.
url	http://www.sciencedirect.com/science/article/pii/S1873506119302909
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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.

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