Generation of an induced pluripotent stem cell line (UCLi026-A) from a patient with ADCY5-related disease carrying the heterozygous variant c.1253G > A; (p. Arg418Gln)
Adenylyl cyclase 5 (ADCY5)-related diseases are a rare group of genetic disorders that commonly present in childhood. Heterozygous mutations in ADCY5 lead to ADCY5-related dyskinesia, comprising a wide array of disabling hyperkinetic movement disorders including chorea, myoclonus and/or dystonia. We...
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| Format: | Article |
| Language: | English |
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Elsevier
2025-04-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506125000194 |
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| author | Sharmin Alhaque Dimitri Budinger Barbara Garavaglia Giovanna Zorzi Serena Barral Manju A. Kurian |
| author_facet | Sharmin Alhaque Dimitri Budinger Barbara Garavaglia Giovanna Zorzi Serena Barral Manju A. Kurian |
| author_sort | Sharmin Alhaque |
| collection | DOAJ |
| description | Adenylyl cyclase 5 (ADCY5)-related diseases are a rare group of genetic disorders that commonly present in childhood. Heterozygous mutations in ADCY5 lead to ADCY5-related dyskinesia, comprising a wide array of disabling hyperkinetic movement disorders including chorea, myoclonus and/or dystonia. We generated an induced pluripotent stem cell line from the fibroblasts of an affected patient with the common heterozygous pathogenic variant, c.1253G > A (p.Arg418Gln). This line was further characterised for pluripotency, differentiation potential and genomic integrity. This cell line, UCLi026-A (UCL-NG-ADCY5-001) can be utilized for in vitro disease modelling of ADCY5-related diseases, as well as for the development of novel therapeutic approaches. |
| format | Article |
| id | doaj-art-efe0eb6ec161479394ad1aab0b9aa428 |
| institution | Kabale University |
| issn | 1873-5061 |
| language | English |
| publishDate | 2025-04-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj-art-efe0eb6ec161479394ad1aab0b9aa4282025-02-08T05:00:03ZengElsevierStem Cell Research1873-50612025-04-0184103669Generation of an induced pluripotent stem cell line (UCLi026-A) from a patient with ADCY5-related disease carrying the heterozygous variant c.1253G > A; (p. Arg418Gln)Sharmin Alhaque0Dimitri Budinger1Barbara Garavaglia2Giovanna Zorzi3Serena Barral4Manju A. Kurian5Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, Great Ormond Street Institute of Child Health, University College London, UKDevelopmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, Great Ormond Street Institute of Child Health, University College London, UKMolecular Neurogenetics Unit, IRCCS Foundation, Neurological Institute C. Besta, Via L Temolo 4, 20126 Milan, ItalyDepartment of Pediatric Neurology, Fondazione IRCCS Instituto Neurologico “Carlo Besto”. Milan, Via Celoria 11, 20133 Milan, ItalyDevelopmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, Great Ormond Street Institute of Child Health, University College London, UKDevelopmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, Great Ormond Street Institute of Child Health, University College London, UK; Department of Neurology, Great Ormond Street Hospital for Children, London, UK; Corresponding author at: Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, Great Ormond Street Institute of Child Health, University College London, UK.Adenylyl cyclase 5 (ADCY5)-related diseases are a rare group of genetic disorders that commonly present in childhood. Heterozygous mutations in ADCY5 lead to ADCY5-related dyskinesia, comprising a wide array of disabling hyperkinetic movement disorders including chorea, myoclonus and/or dystonia. We generated an induced pluripotent stem cell line from the fibroblasts of an affected patient with the common heterozygous pathogenic variant, c.1253G > A (p.Arg418Gln). This line was further characterised for pluripotency, differentiation potential and genomic integrity. This cell line, UCLi026-A (UCL-NG-ADCY5-001) can be utilized for in vitro disease modelling of ADCY5-related diseases, as well as for the development of novel therapeutic approaches.http://www.sciencedirect.com/science/article/pii/S1873506125000194 |
| spellingShingle | Sharmin Alhaque Dimitri Budinger Barbara Garavaglia Giovanna Zorzi Serena Barral Manju A. Kurian Generation of an induced pluripotent stem cell line (UCLi026-A) from a patient with ADCY5-related disease carrying the heterozygous variant c.1253G > A; (p. Arg418Gln) Stem Cell Research |
| title | Generation of an induced pluripotent stem cell line (UCLi026-A) from a patient with ADCY5-related disease carrying the heterozygous variant c.1253G > A; (p. Arg418Gln) |
| title_full | Generation of an induced pluripotent stem cell line (UCLi026-A) from a patient with ADCY5-related disease carrying the heterozygous variant c.1253G > A; (p. Arg418Gln) |
| title_fullStr | Generation of an induced pluripotent stem cell line (UCLi026-A) from a patient with ADCY5-related disease carrying the heterozygous variant c.1253G > A; (p. Arg418Gln) |
| title_full_unstemmed | Generation of an induced pluripotent stem cell line (UCLi026-A) from a patient with ADCY5-related disease carrying the heterozygous variant c.1253G > A; (p. Arg418Gln) |
| title_short | Generation of an induced pluripotent stem cell line (UCLi026-A) from a patient with ADCY5-related disease carrying the heterozygous variant c.1253G > A; (p. Arg418Gln) |
| title_sort | generation of an induced pluripotent stem cell line ucli026 a from a patient with adcy5 related disease carrying the heterozygous variant c 1253g a p arg418gln |
| url | http://www.sciencedirect.com/science/article/pii/S1873506125000194 |
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