Generation of Leber congenital amaurosis, type 12 patient-specific induced pluripotent stem cell line (LVPEIi006-A), harboring a homozygous mutation in RD3
Leber congenital amaurosis (LCA) is a congenital, early onset, autosomal recessive inherited retinal disease (IRD). This report describes an LCA12 patient-specific iPSC line (LVPEIi006-A), generated by the reprogramming of dermal fibroblasts using integration-free episomal plasmids.This disease-spec...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2024-06-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506124000783 |
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| author | Sudipta Mahato Savitri Maddileti Milind Naik Chitra Kannabiran Subhadra Jalali Indumathi Mariappan |
| author_facet | Sudipta Mahato Savitri Maddileti Milind Naik Chitra Kannabiran Subhadra Jalali Indumathi Mariappan |
| author_sort | Sudipta Mahato |
| collection | DOAJ |
| description | Leber congenital amaurosis (LCA) is a congenital, early onset, autosomal recessive inherited retinal disease (IRD). This report describes an LCA12 patient-specific iPSC line (LVPEIi006-A), generated by the reprogramming of dermal fibroblasts using integration-free episomal plasmids.This disease-specific iPSC model carries a homozygous point mutation in RD3, within the donor splice site at the end of exon 2 (c.296 + 1G > A). The stable line at passage 15 has displayed a normal colony morphology, expressed multiple stemness and pluripotency markers, lost all transgenes, differentiated into cell types of all three germ layers, and maintained a normal karyotype. |
| first_indexed | 2024-04-25T00:17:09Z |
| format | Article |
| id | doaj.art-de3db48639284adab08feed674805637 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-04-25T00:17:09Z |
| publishDate | 2024-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-de3db48639284adab08feed6748056372024-03-13T04:45:13ZengElsevierStem Cell Research1873-50612024-06-0177103380Generation of Leber congenital amaurosis, type 12 patient-specific induced pluripotent stem cell line (LVPEIi006-A), harboring a homozygous mutation in RD3Sudipta Mahato0Savitri Maddileti1Milind Naik2Chitra Kannabiran3Subhadra Jalali4Indumathi Mariappan5Centre for Ocular Regeneration, Prof. Brien Holden Eye Research Centre, Hyderabad Eye Research Foundation, L.V. Prasad Eye Institute, Hyderabad, Telangana, India; Manipal Academy of Higher Education, Manipal, Karnataka, IndiaCentre for Ocular Regeneration, Prof. Brien Holden Eye Research Centre, Hyderabad Eye Research Foundation, L.V. Prasad Eye Institute, Hyderabad, Telangana, IndiaDepartment of Ophthalmic Plastic Surgery & Facial Aesthetics, Hyderabad Eye Institute, L.V. Prasad Eye Institute, Hyderabad, Telangana, IndiaKallam Anji Reddy Molecular Genetics Laboratory, Prof. Brien Holden Eye Research Centre, Hyderabad Eye Research Foundation, LV Prasad Eye Institute, Hyderabad, Telangana, IndiaSrimati Kanuri Santhamma Centre for Vitreo Retinal Diseases, Anant Bajaj Retina Institute, L.V. Prasad Eye Institute, Hyderabad, Telangana, IndiaCentre for Ocular Regeneration, Prof. Brien Holden Eye Research Centre, Hyderabad Eye Research Foundation, L.V. Prasad Eye Institute, Hyderabad, Telangana, India; Corresponding author at: Centre for Ocular Regeneration, Prof. Brien Holden Eye Research Centre, Hyderabad Eye Research Foundation, LV Prasad Eye Institute, Road No. 2, Banjara Hills, Hyderabad 500034, India.Leber congenital amaurosis (LCA) is a congenital, early onset, autosomal recessive inherited retinal disease (IRD). This report describes an LCA12 patient-specific iPSC line (LVPEIi006-A), generated by the reprogramming of dermal fibroblasts using integration-free episomal plasmids.This disease-specific iPSC model carries a homozygous point mutation in RD3, within the donor splice site at the end of exon 2 (c.296 + 1G > A). The stable line at passage 15 has displayed a normal colony morphology, expressed multiple stemness and pluripotency markers, lost all transgenes, differentiated into cell types of all three germ layers, and maintained a normal karyotype.http://www.sciencedirect.com/science/article/pii/S1873506124000783 |
| spellingShingle | Sudipta Mahato Savitri Maddileti Milind Naik Chitra Kannabiran Subhadra Jalali Indumathi Mariappan Generation of Leber congenital amaurosis, type 12 patient-specific induced pluripotent stem cell line (LVPEIi006-A), harboring a homozygous mutation in RD3 Stem Cell Research |
| title | Generation of Leber congenital amaurosis, type 12 patient-specific induced pluripotent stem cell line (LVPEIi006-A), harboring a homozygous mutation in RD3 |
| title_full | Generation of Leber congenital amaurosis, type 12 patient-specific induced pluripotent stem cell line (LVPEIi006-A), harboring a homozygous mutation in RD3 |
| title_fullStr | Generation of Leber congenital amaurosis, type 12 patient-specific induced pluripotent stem cell line (LVPEIi006-A), harboring a homozygous mutation in RD3 |
| title_full_unstemmed | Generation of Leber congenital amaurosis, type 12 patient-specific induced pluripotent stem cell line (LVPEIi006-A), harboring a homozygous mutation in RD3 |
| title_short | Generation of Leber congenital amaurosis, type 12 patient-specific induced pluripotent stem cell line (LVPEIi006-A), harboring a homozygous mutation in RD3 |
| title_sort | generation of leber congenital amaurosis type 12 patient specific induced pluripotent stem cell line lvpeii006 a harboring a homozygous mutation in rd3 |
| url | http://www.sciencedirect.com/science/article/pii/S1873506124000783 |
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