Reprogramming of Hypophosphatasia patient cells to generate a new human iPSC cell line (UOMi009-A)
In this study we report reprogramming and generation of a new human induced pluripotent stem cell line UOMi009_A, which was generated from a 64 year old male patient with childhood onset Hypophosphatasia (HPP). The patient has compound heterozygous mutations in the ALPL gene (c.571G>A (p.Glu191Ly...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2022-10-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506122002707 |
| _version_ | 1811339924990853120 |
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| author | Abhay Srivastava Ina Siwach Cheryl Rockman-Greenberg Sanjiv Dhingra |
| author_facet | Abhay Srivastava Ina Siwach Cheryl Rockman-Greenberg Sanjiv Dhingra |
| author_sort | Abhay Srivastava |
| collection | DOAJ |
| description | In this study we report reprogramming and generation of a new human induced pluripotent stem cell line UOMi009_A, which was generated from a 64 year old male patient with childhood onset Hypophosphatasia (HPP). The patient has compound heterozygous mutations in the ALPL gene (c.571G>A (p.Glu191Lys) and c.1001G>A (p.Gly334Asp)) which were confirmed in the UOMi009_A line. This line was well characterized and will help in our future assessment of HPP disease pathophysiology and drug screening. |
| first_indexed | 2024-04-13T18:34:38Z |
| format | Article |
| id | doaj.art-dee731eaa4c441fdb2e569dd40789cf1 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-04-13T18:34:38Z |
| publishDate | 2022-10-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-dee731eaa4c441fdb2e569dd40789cf12022-12-22T02:34:57ZengElsevierStem Cell Research1873-50612022-10-0164102921Reprogramming of Hypophosphatasia patient cells to generate a new human iPSC cell line (UOMi009-A)Abhay Srivastava0Ina Siwach1Cheryl Rockman-Greenberg2Sanjiv Dhingra3Institute of Cardiovascular Sciences, St. Boniface Hospital Albrechtsen Research Centre, Regenerative Medicine Program, Department of Physiology and Pathophysiology, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, CanadaInstitute of Cardiovascular Sciences, St. Boniface Hospital Albrechtsen Research Centre, Regenerative Medicine Program, Department of Physiology and Pathophysiology, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, CanadaDepartment of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, CanadaInstitute of Cardiovascular Sciences, St. Boniface Hospital Albrechtsen Research Centre, Regenerative Medicine Program, Department of Physiology and Pathophysiology, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Canada; Corresponding author.In this study we report reprogramming and generation of a new human induced pluripotent stem cell line UOMi009_A, which was generated from a 64 year old male patient with childhood onset Hypophosphatasia (HPP). The patient has compound heterozygous mutations in the ALPL gene (c.571G>A (p.Glu191Lys) and c.1001G>A (p.Gly334Asp)) which were confirmed in the UOMi009_A line. This line was well characterized and will help in our future assessment of HPP disease pathophysiology and drug screening.http://www.sciencedirect.com/science/article/pii/S1873506122002707 |
| spellingShingle | Abhay Srivastava Ina Siwach Cheryl Rockman-Greenberg Sanjiv Dhingra Reprogramming of Hypophosphatasia patient cells to generate a new human iPSC cell line (UOMi009-A) Stem Cell Research |
| title | Reprogramming of Hypophosphatasia patient cells to generate a new human iPSC cell line (UOMi009-A) |
| title_full | Reprogramming of Hypophosphatasia patient cells to generate a new human iPSC cell line (UOMi009-A) |
| title_fullStr | Reprogramming of Hypophosphatasia patient cells to generate a new human iPSC cell line (UOMi009-A) |
| title_full_unstemmed | Reprogramming of Hypophosphatasia patient cells to generate a new human iPSC cell line (UOMi009-A) |
| title_short | Reprogramming of Hypophosphatasia patient cells to generate a new human iPSC cell line (UOMi009-A) |
| title_sort | reprogramming of hypophosphatasia patient cells to generate a new human ipsc cell line uomi009 a |
| url | http://www.sciencedirect.com/science/article/pii/S1873506122002707 |
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