Generation of an iPSC line (RMCGENi020-A) from a patient with Stargardt disease harboring the recurrent intronic ABCA4 variant c.4253+43G>A
Pathogenic variants in ABCA4 are associated with Stargardt disease (STGD1), an autosomal recessive macular dystrophy characterized by bilateral central vision loss due to a progressive degeneration of retinal cells. An induced pluripotent stem cell (iPSC) line was generated from late-onset STGD1 pat...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-12-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506123002386 |
| _version_ | 1797401784560386048 |
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| author | Nuria Suárez-Herrera Nico Leijsten Silvia Albert Nathalie M. Bax Carel B. Hoyng Frans P.M. Cremers Alejandro Garanto Rob W.J. Collin |
| author_facet | Nuria Suárez-Herrera Nico Leijsten Silvia Albert Nathalie M. Bax Carel B. Hoyng Frans P.M. Cremers Alejandro Garanto Rob W.J. Collin |
| author_sort | Nuria Suárez-Herrera |
| collection | DOAJ |
| description | Pathogenic variants in ABCA4 are associated with Stargardt disease (STGD1), an autosomal recessive macular dystrophy characterized by bilateral central vision loss due to a progressive degeneration of retinal cells. An induced pluripotent stem cell (iPSC) line was generated from late-onset STGD1 patient-derived fibroblasts harboring bi-allelic ABCA4 variants by lentivirus-induced reprogramming. The obtained iPSC line (RMCGENi020-A) showed pluripotent features after the reprogramming process. The generation of this iPSC line facilitates its use to differentiate it into relevant retinal-like cell models, with the aim to adequately evaluate the effects of the ABCA4 variants. |
| first_indexed | 2024-03-09T02:15:19Z |
| format | Article |
| id | doaj.art-d941c4a9899844418c163372794e5485 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-03-09T02:15:19Z |
| publishDate | 2023-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-d941c4a9899844418c163372794e54852023-12-07T05:28:23ZengElsevierStem Cell Research1873-50612023-12-0173103252Generation of an iPSC line (RMCGENi020-A) from a patient with Stargardt disease harboring the recurrent intronic ABCA4 variant c.4253+43G>ANuria Suárez-Herrera0Nico Leijsten1Silvia Albert2Nathalie M. Bax3Carel B. Hoyng4Frans P.M. Cremers5Alejandro Garanto6Rob W.J. Collin7Radboud University Medical Center, Department of Human Genetics, Nijmegen, the NetherlandsRadboud University Medical Center, Department of Human Genetics, Nijmegen, the NetherlandsRadboud University Medical Center, Department of Human Genetics, Nijmegen, the NetherlandsRadboud University Medical Center, Department of Ophthalmology, Nijmegen, the NetherlandsRadboud University Medical Center, Department of Ophthalmology, Nijmegen, the NetherlandsRadboud University Medical Center, Department of Human Genetics, Nijmegen, the NetherlandsRadboud University Medical Center, Department of Human Genetics, Nijmegen, the Netherlands; Amalia Children’s Hospital, Department of Pediatrics, Nijmegen, the NetherlandsRadboud University Medical Center, Department of Human Genetics, Nijmegen, the Netherlands; Corresponding author.Pathogenic variants in ABCA4 are associated with Stargardt disease (STGD1), an autosomal recessive macular dystrophy characterized by bilateral central vision loss due to a progressive degeneration of retinal cells. An induced pluripotent stem cell (iPSC) line was generated from late-onset STGD1 patient-derived fibroblasts harboring bi-allelic ABCA4 variants by lentivirus-induced reprogramming. The obtained iPSC line (RMCGENi020-A) showed pluripotent features after the reprogramming process. The generation of this iPSC line facilitates its use to differentiate it into relevant retinal-like cell models, with the aim to adequately evaluate the effects of the ABCA4 variants.http://www.sciencedirect.com/science/article/pii/S1873506123002386 |
| spellingShingle | Nuria Suárez-Herrera Nico Leijsten Silvia Albert Nathalie M. Bax Carel B. Hoyng Frans P.M. Cremers Alejandro Garanto Rob W.J. Collin Generation of an iPSC line (RMCGENi020-A) from a patient with Stargardt disease harboring the recurrent intronic ABCA4 variant c.4253+43G>A Stem Cell Research |
| title | Generation of an iPSC line (RMCGENi020-A) from a patient with Stargardt disease harboring the recurrent intronic ABCA4 variant c.4253+43G>A |
| title_full | Generation of an iPSC line (RMCGENi020-A) from a patient with Stargardt disease harboring the recurrent intronic ABCA4 variant c.4253+43G>A |
| title_fullStr | Generation of an iPSC line (RMCGENi020-A) from a patient with Stargardt disease harboring the recurrent intronic ABCA4 variant c.4253+43G>A |
| title_full_unstemmed | Generation of an iPSC line (RMCGENi020-A) from a patient with Stargardt disease harboring the recurrent intronic ABCA4 variant c.4253+43G>A |
| title_short | Generation of an iPSC line (RMCGENi020-A) from a patient with Stargardt disease harboring the recurrent intronic ABCA4 variant c.4253+43G>A |
| title_sort | generation of an ipsc line rmcgeni020 a from a patient with stargardt disease harboring the recurrent intronic abca4 variant c 4253 43g a |
| url | http://www.sciencedirect.com/science/article/pii/S1873506123002386 |
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