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
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 mutatio...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2017-10-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506117301460 |
| _version_ | 1811241665383366656 |
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| author | Maojia Xu Eva-lena Stattin Mary Murphy Frank Barry |
| author_facet | Maojia Xu Eva-lena Stattin Mary Murphy Frank Barry |
| author_sort | Maojia Xu |
| collection | DOAJ |
| description | 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 pluripotency markers, displayed normal karyotype, showed pluripotent differentiation capacity and retained the targeted mutation. Disease modeling with this ARO patient-specific iPSC line will shed further light on the critical role of the SNX10 mutation in ARO development. |
| first_indexed | 2024-04-12T13:39:25Z |
| format | Article |
| id | doaj.art-ac55ecd0c2ac45109acc0952bbaf5121 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 1876-7753 |
| language | English |
| last_indexed | 2024-04-12T13:39:25Z |
| publishDate | 2017-10-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-ac55ecd0c2ac45109acc0952bbaf51212022-12-22T03:30:53ZengElsevierStem Cell Research1873-50611876-77532017-10-0124C515410.1016/j.scr.2017.07.024Generation of induced pluripotent stem cells (ARO-iPSC1-11) from a patient with autosomal recessive osteopetrosis harboring the c.212 + 1G > T mutation in SNX10 geneMaojia Xu0Eva-lena Stattin1Mary Murphy2Frank Barry3Regenerative Medicine Institute, National University of Ireland Galway, Galway, IrelandDepartment of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, 751 85 Uppsala, SwedenRegenerative Medicine Institute, National University of Ireland Galway, Galway, IrelandRegenerative Medicine Institute, National University of Ireland Galway, Galway, IrelandPathogenic 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 pluripotency markers, displayed normal karyotype, showed pluripotent differentiation capacity and retained the targeted mutation. Disease modeling with this ARO patient-specific iPSC line will shed further light on the critical role of the SNX10 mutation in ARO development.http://www.sciencedirect.com/science/article/pii/S1873506117301460 |
| spellingShingle | Maojia Xu Eva-lena Stattin Mary Murphy Frank Barry 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 |
| title | 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| url | http://www.sciencedirect.com/science/article/pii/S1873506117301460 |
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