دورية أكاديمية
Generation of a human induced pluripotent stem cell line from a patient with hypomyelinating leukodystrophy 22 (HLD22).
| العنوان: | Generation of a human induced pluripotent stem cell line from a patient with hypomyelinating leukodystrophy 22 (HLD22). |
|---|---|
| المؤلفون: | Ozgoren OK; Centre for Molecular Medicine and Therapeutics, Djavad Mowafaghian Centre for Brain Health, British Columbia Children's Hospital Research Institute, University of British Columbia, Vancouver V5Z 4H4, Canada; Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada., Sequiera GL; Centre for Molecular Medicine and Therapeutics, Djavad Mowafaghian Centre for Brain Health, British Columbia Children's Hospital Research Institute, University of British Columbia, Vancouver V5Z 4H4, Canada; Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada., Ferrari Bardile C; Centre for Molecular Medicine and Therapeutics, Djavad Mowafaghian Centre for Brain Health, British Columbia Children's Hospital Research Institute, University of British Columbia, Vancouver V5Z 4H4, Canada; Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada., Gjervan SC; Centre for Molecular Medicine and Therapeutics, Djavad Mowafaghian Centre for Brain Health, British Columbia Children's Hospital Research Institute, University of British Columbia, Vancouver V5Z 4H4, Canada; Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada., Salman A; Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada., Lehman A; Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada., Turvey SE; Department of Pediatrics, The University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada., Ross CJD; Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada., Stockler S; Department of Pediatrics, The University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada., Pouladi MA; Centre for Molecular Medicine and Therapeutics, Djavad Mowafaghian Centre for Brain Health, British Columbia Children's Hospital Research Institute, University of British Columbia, Vancouver V5Z 4H4, Canada; Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada. Electronic address: map@pouladilab.org. |
| المصدر: | Stem cell research [Stem Cell Res] 2023 Sep; Vol. 71, pp. 103174. Date of Electronic Publication: 2023 Jul 28. |
| 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: | Hereditary Central Nervous System Demyelinating Diseases*/genetics , Hereditary Central Nervous System Demyelinating Diseases*/pathology , Pluripotent Stem Cells*/pathology , Cell Line*, Humans ; Male ; Child ; Fibroblasts/pathology |
| مستخلص: | Hypomyelinating Leukodystrophy 22 (HLD22) is caused by a stoploss mutation in CLDN11. To study the molecular mechanisms underlying HLD22, human induced pluripotent stem cells (hiPSCs) were generated from patient fibroblasts carrying the stop-loss mutation in CLDN11. Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. (Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.) |
| المشرفين على المادة: | 0 (CLDN11 protein, human) |
| SCR Disease Name: | Leukodystrophy, Hypomyelinating, 2 |
| تواريخ الأحداث: | Date Created: 20230802 Date Completed: 20230908 Latest Revision: 20230913 |
| رمز التحديث: | 20230913 |
| DOI: | 10.1016/j.scr.2023.103174 |
| PMID: | 37531724 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1876-7753 |
|---|---|
| DOI: | 10.1016/j.scr.2023.103174 |