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

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作者： Imke M E,Schuurmans ^[1] ; Clara D M,van Karnebeek ^[2] ; Anita D M,Hoogendoorn ^[3] ; Antonia,Ribes ^[4] ; Nael,Nadif Kasri ^[5] ; Alejandro,Garanto ^[6]

作者单位： 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. ^[1] 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. ^[2] Radboud university medical center, Amalia Children's Hospital, Department of Pediatrics, Nijmegen, the Netherlands. ^[3] Section of Inborn Errors of Metabolism-IBC. Department of Biochemistry and Molecular Genetics. Hospital Clinic de Barcelona, IDIBAPS-CIBERER, Barcelona, Spain. ^[4] 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. ^[5] 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. ^[6]

主题词人类(Humans);氨基酸代谢障碍, 先天性(Amino Acid Metabolism, Inborn Errors);戊二酰-CoA脱氢酶(Glutaryl-CoA Dehydrogenase);脑疾病, 代谢性(Brain Diseases, Metabolic);诱导多能干细胞(Induced Pluripotent Stem Cells);女(雌)性(Female);男(雄)性(Male);等位基因(Alleles);细胞系(Cell Line)

DOI 10.1016/j.scr.2024.103481

PMID 38924972

发布时间 2024-09-12

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Stem cell research

2024年79卷

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

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

Stem cell research

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Stem cell research

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