دورية أكاديمية
Induced pluripotent stem cell line UOMi002-A from a patient with Leigh syndrome with compound heterozygous mutations in the NDUFV1 gene.
| العنوان: | Induced pluripotent stem cell line UOMi002-A from a patient with Leigh syndrome with compound heterozygous mutations in the NDUFV1 gene. |
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| المؤلفون: | Sequiera GL; Institute 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, Canada., Rockman-Greenberg C; Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Canada., Dhingra S; Institute 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, Canada. Electronic address: sdhingra@sbrc.ca. |
| المصدر: | Stem cell research [Stem Cell Res] 2020 Oct; Vol. 48, pp. 101964. Date of Electronic Publication: 2020 Aug 27. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Kidlington, Oxford : Elsevier |
| مواضيع طبية MeSH: | Electron Transport Complex I* , Induced Pluripotent Stem Cells* , Leigh Disease*/genetics, Child ; Child, Preschool ; DNA, Mitochondrial/genetics ; Female ; Humans ; Mitochondria ; Mutation |
| مستخلص: | Within the umbrella of mitochondrial disorders, Leigh's disease is characterised as a rarer form with more than 80 genetic and mitochondrial DNA aberration variants. Here we report establishment of an induced pluripotent stem cell (iPSC) line from a 2.5 years old deceased female child, harbouring mutations in the NDUFV1 gene. One of the variants reported here is novel. The establishment of iPSC line allows development of a stable disease model for the specific variations, as there are no other cell/animal disease models for the same. (Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.) |
| معلومات مُعتمدة: | MOP142265 Canada CIHR |
| المشرفين على المادة: | 0 (DNA, Mitochondrial) 0 (NDUFV1 protein, human) EC 7.1.1.2 (Electron Transport Complex I) |
| تواريخ الأحداث: | Date Created: 20200902 Date Completed: 20210528 Latest Revision: 20210528 |
| رمز التحديث: | 20221213 |
| DOI: | 10.1016/j.scr.2020.101964 |
| PMID: | 32871395 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1876-7753 |
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| DOI: | 10.1016/j.scr.2020.101964 |