Generation of an induced pluripotent stem cell line carrying a biallelic deletion (SCTCi019-A) in GCDH using CRISPR/Cas9
GCDH encodes for the enzyme catalyzing the sixth step of the lysine catabolism pathway. Biallelic pathogenic variants in GCDH have been associated with glutaric aciduria type 1 (GA1). In this study CRISPR/Cas9 technology was used to create an isogenic GCDH knock-out human iPSC line. One clone with a...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2023-06-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506123000557 |
| _version_ | 1827937857606516736 |
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| author | Imke M.E. Schuurmans Ka M. Wu Clara D.M. van Karnebeek Nael Nadif Kasri Alejandro Garanto |
| author_facet | Imke M.E. Schuurmans Ka M. Wu Clara D.M. van Karnebeek Nael Nadif Kasri Alejandro Garanto |
| author_sort | Imke M.E. Schuurmans |
| collection | DOAJ |
| description | GCDH encodes for the enzyme catalyzing the sixth step of the lysine catabolism pathway. Biallelic pathogenic variants in GCDH have been associated with glutaric aciduria type 1 (GA1). In this study CRISPR/Cas9 technology was used to create an isogenic GCDH knock-out human iPSC line. One clone with a biallelic deletion (SCTCi019-A) in GCDH was obtained and fully characterized, revealing a normal karyotype, no off-targets detected and expression of pluripotency markers. This iPSC line can contribute to gain insights in the molecular mechanism of disease. |
| first_indexed | 2024-03-13T08:31:51Z |
| format | Article |
| id | doaj.art-52d9d77ce58e4212930f6f2ce2493905 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-03-13T08:31:51Z |
| publishDate | 2023-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-52d9d77ce58e4212930f6f2ce24939052023-05-31T04:44:05ZengElsevierStem Cell Research1873-50612023-06-0169103069Generation of an induced pluripotent stem cell line carrying a biallelic deletion (SCTCi019-A) in GCDH using CRISPR/Cas9Imke M.E. Schuurmans0Ka M. Wu1Clara D.M. van Karnebeek2Nael Nadif Kasri3Alejandro Garanto4Department of Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; Amalia Children’s Hospital, Radboud University Medical Center, Nijmegen, The Netherlands; Departments of Pediatrics and Human Genetics, Emma Center for Personalized Medicine, Amsterdam University Medical Centers, University of Amsterdam, The NetherlandsDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The NetherlandsDepartments of Pediatrics and Human Genetics, Emma Center for Personalized Medicine, Amsterdam University Medical Centers, University of Amsterdam, The Netherlands; United for Metabolic Diseases, Amsterdam, The Netherlands; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The NetherlandsDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The NetherlandsDepartment of Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; Amalia Children’s Hospital, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Corresponding author.GCDH encodes for the enzyme catalyzing the sixth step of the lysine catabolism pathway. Biallelic pathogenic variants in GCDH have been associated with glutaric aciduria type 1 (GA1). In this study CRISPR/Cas9 technology was used to create an isogenic GCDH knock-out human iPSC line. One clone with a biallelic deletion (SCTCi019-A) in GCDH was obtained and fully characterized, revealing a normal karyotype, no off-targets detected and expression of pluripotency markers. This iPSC line can contribute to gain insights in the molecular mechanism of disease.http://www.sciencedirect.com/science/article/pii/S1873506123000557 |
| spellingShingle | Imke M.E. Schuurmans Ka M. Wu Clara D.M. van Karnebeek Nael Nadif Kasri Alejandro Garanto Generation of an induced pluripotent stem cell line carrying a biallelic deletion (SCTCi019-A) in GCDH using CRISPR/Cas9 Stem Cell Research |
| title | Generation of an induced pluripotent stem cell line carrying a biallelic deletion (SCTCi019-A) in GCDH using CRISPR/Cas9 |
| title_full | Generation of an induced pluripotent stem cell line carrying a biallelic deletion (SCTCi019-A) in GCDH using CRISPR/Cas9 |
| title_fullStr | Generation of an induced pluripotent stem cell line carrying a biallelic deletion (SCTCi019-A) in GCDH using CRISPR/Cas9 |
| title_full_unstemmed | Generation of an induced pluripotent stem cell line carrying a biallelic deletion (SCTCi019-A) in GCDH using CRISPR/Cas9 |
| title_short | Generation of an induced pluripotent stem cell line carrying a biallelic deletion (SCTCi019-A) in GCDH using CRISPR/Cas9 |
| title_sort | generation of an induced pluripotent stem cell line carrying a biallelic deletion sctci019 a in gcdh using crispr cas9 |
| url | http://www.sciencedirect.com/science/article/pii/S1873506123000557 |
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