دورية أكاديمية
أعرض في EDS

Generation of hiPSC lines from four glutaric aciduria type I (GA1) patients carrying pathogenic biallelic variants in GCDH.

التفاصيل البيبلوغرافية
العنوان: Generation of hiPSC lines from four glutaric aciduria type I (GA1) patients carrying pathogenic biallelic variants in GCDH.
المؤلفون: Schuurmans IME; Radboud university medical center, Amalia Children's Hospital, Department of Pediatrics, Nijmegen, the Netherlands; Emma Center for Personalized Medicine, Departments of Pediatrics and Human Genetics, Amsterdam University Medical Center, Amsterdam, the Netherlands., van Karnebeek CDM; Emma Center for Personalized Medicine, Departments of Pediatrics and Human Genetics, Amsterdam University Medical Center, Amsterdam, the Netherlands; United for Metabolic Diseases, Amsterdam, the Netherlands., Hoogendoorn ADM; Radboud university medical center, Amalia Children's Hospital, Department of Pediatrics, Nijmegen, the Netherlands., Ribes A; Section of Inborn Errors of Metabolism-IBC. Department of Biochemistry and Molecular Genetics. Hospital Clinic de Barcelona, IDIBAPS-CIBERER, Barcelona, Spain., Nadif Kasri N; Radboud university medical center, Department of Human Genetics, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, the Netherlands., Garanto A; Radboud university medical center, Amalia Children's Hospital, Department of Pediatrics, Nijmegen, the Netherlands; Radboud university medical center, Department of Human Genetics, Nijmegen, the Netherlands. Electronic address: alex.garanto@radboudumc.nl.
المصدر: Stem cell research [Stem Cell Res] 2024 Sep; Vol. 79, pp. 103481. Date of Electronic Publication: 2024 Jun 19.
نوع المنشور: Journal Article
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: Amino Acid Metabolism, Inborn Errors*/genetics , Amino Acid Metabolism, Inborn Errors*/pathology , Amino Acid Metabolism, Inborn Errors*/metabolism , Glutaryl-CoA Dehydrogenase*/deficiency , Glutaryl-CoA Dehydrogenase*/genetics , Glutaryl-CoA Dehydrogenase*/metabolism , Brain Diseases, Metabolic*/genetics , Brain Diseases, Metabolic*/pathology , Brain Diseases, Metabolic*/metabolism , Induced Pluripotent Stem Cells*/metabolism, Humans ; Female ; Male ; Alleles ; Cell Line
مستخلص: GCDH encodes for the enzyme catalyzing the sixth step of the lysine degradation pathway. Autosomal recessive variants in GCDH are associated with glutaric aciduria type I (GA1), of which a wide genotypic spectrum of pathogenic variants have been described. In this study, hiPSC lines derived from four GA1 patients with different genotypes were generated and fully characterized. Two patients carry compound heterozygous variants in GCDH, while the other two patients carry a variant in homozygosis. These hiPSC lines can significantly contribute to better understand the molecular mechanism underlying GA1 and provide excellent models for the development of new therapeutic strategies.
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 © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.)
المشرفين على المادة: EC 1.3.8.6 (Glutaryl-CoA Dehydrogenase)
SCR Disease Name: Glutaric Acidemia I
تواريخ الأحداث: Date Created: 20240626 Date Completed: 20240802 Latest Revision: 20240802
رمز التحديث: 20240803
DOI: 10.1016/j.scr.2024.103481
PMID: 38924972
قاعدة البيانات: MEDLINE
الوصف
تدمد:1876-7753
DOI:10.1016/j.scr.2024.103481