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...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2020-01-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506119302909 |
| _version_ | 1818164140201476096 |
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| author | Gaetana Lanzi Rosalba Monica Ferraro Stefania Masneri Giovanna Piovani Chiara Barisani Cristina Sobacchi Anna Villa Paolo Vezzoni Silvia Giliani |
| 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 |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-11T17:00:43Z |
| format | Article |
| id | doaj.art-75dc4a791c1a4a38a302ed744b9da98d |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-12-11T17:00:43Z |
| publishDate | 2020-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-75dc4a791c1a4a38a302ed744b9da98d2022-12-22T00:57:49ZengElsevierStem 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 |
| 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 |
| 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_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_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_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 |
| url | http://www.sciencedirect.com/science/article/pii/S1873506119302909 |
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