Academic Journal
Ataxia Telangiectasia iPSC line generated from a patient olfactory biopsy identifies novel disease-causing mutations
| العنوان: | Ataxia Telangiectasia iPSC line generated from a patient olfactory biopsy identifies novel disease-causing mutations |
|---|---|
| المؤلفون: | Leeson, Hannah C, Hunter, Zoe, Chaggar, Harman Kaur, Lavin, Martin F, Mackay-Sim, Alan, Wolvetang, Ernst J |
| بيانات النشر: | Elsevier BV |
| سنة النشر: | 2021 |
| المجموعة: | Griffith University: Griffith Research Online |
| مصطلحات موضوعية: | Biomedical and clinical sciences, Genetics, Microbiology, Biological sciences, Health sciences |
| الوصف: | Ataxia Telangiectasia is a rare autosomal recessive disorder caused by a mutated ATM gene. The most debilitating symptom of Ataxia Telangiectasia is the progressive neurodegeneration of the cerebellum, though the molecular mechanisms driving this degeneration remains unclear. Here we describe the generation and validation of an induced pluripotent stem cell (iPSC) line from an olfactory biopsy from a patient with Ataxia Telangiectasia. Sequencing identified two previously unreported disease-causing mutations in the ATM gene. This line can be used to generate 2D and 3D patient-specific neuronal models enabling investigations into the mechanisms underlying neurodegeneration. ; Full Text |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 1873-5061 |
| Relation: | Stem Cell Research; Leeson, HC; Hunter, Z; Chaggar, HK; Lavin, MF; Mackay-Sim, A; Wolvetang, EJ, Ataxia Telangiectasia iPSC line generated from a patient olfactory biopsy identifies novel disease-causing mutations, Stem Cell Research, 2021, 56, pp. 102528; http://hdl.handle.net/10072/407940 |
| DOI: | 10.1016/j.scr.2021.102528 |
| الاتاحة: | http://hdl.handle.net/10072/407940 https://doi.org/10.1016/j.scr.2021.102528 |
| Rights: | https://creativecommons.org/licenses/by-nc-nd/4.0/ ; © 2021 The Authors.Published by Elsevier B.V. This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International (CC BY-NC-ND 4.0) License, which permits unrestricted, non-commercial use, distribution and reproduction in any medium, providing that the work is properly cited. ; open access |
| رقم الانضمام: | edsbas.19DD6F08 |
| قاعدة البيانات: | BASE |
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