Generation and validation of a Leber Congenital Amaurosis, Type 12 patient-specific iPSC line (LVPEIi006-B) with a splice-site mutation in RD3 and an isogenic mutation-corrected iPSC line (LVPEIi006-B-1)
Leber congenital amaurosis, Type 12 is an early onset, autosomal recessive retinal disease caused by mutations in RD3. We report the generation of a patient-specific iPSC line (LVPEIi006-B), using Sendai viral vector-based reprogramming approach and an isogenic, mutation-corrected iPSC line (LVPEIi0...
Saved in:
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-06-01
|
| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506125000534 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850179866654146560 |
|---|---|
| author | Sudipta Mahato Savitri Maddileti Trupti Agrawal Sundaram Acharya Chitra Kannabiran Subhadra Jalali Debojyoti Chakraborty Indumathi Mariappan |
| author_facet | Sudipta Mahato Savitri Maddileti Trupti Agrawal Sundaram Acharya Chitra Kannabiran Subhadra Jalali Debojyoti Chakraborty Indumathi Mariappan |
| author_sort | Sudipta Mahato |
| collection | DOAJ |
| description | Leber congenital amaurosis, Type 12 is an early onset, autosomal recessive retinal disease caused by mutations in RD3. We report the generation of a patient-specific iPSC line (LVPEIi006-B), using Sendai viral vector-based reprogramming approach and an isogenic, mutation-corrected iPSC line (LVPEIi006-B-1), using an en31FnCas9-based adenine base editor (ABE) system. Both lines were clonally expanded and genotyped to confirm the presence of patient-specific mutation and desired base correction in the edited line. Both lines maintained their stemness, pluripotency, genomic integrity and could differentiate into retinal organoids. The mutation-corrected, heterozygous iPSC-derived retinal organoids displayed a partial restoration of normal RD3 mRNA splicing. |
| format | Article |
| id | doaj-art-6fa4bd828d684441b9fba35b7b9fe4d1 |
| institution | OA Journals |
| issn | 1873-5061 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj-art-6fa4bd828d684441b9fba35b7b9fe4d12025-08-20T02:18:24ZengElsevierStem Cell Research1873-50612025-06-018510370310.1016/j.scr.2025.103703Generation and validation of a Leber Congenital Amaurosis, Type 12 patient-specific iPSC line (LVPEIi006-B) with a splice-site mutation in RD3 and an isogenic mutation-corrected iPSC line (LVPEIi006-B-1)Sudipta Mahato0Savitri Maddileti1Trupti Agrawal2Sundaram Acharya3Chitra Kannabiran4Subhadra Jalali5Debojyoti Chakraborty6Indumathi Mariappan7Centre 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, IndiaCentre 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, IndiaCSIR-Institute of Genomics & Integrative Biology, Mathura Road, New Delhi 110025, India; Academy of Scientific & Innovative Research (AcSIR), Ghaziabad 201002, 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, IndiaCSIR-Institute of Genomics & Integrative Biology, Mathura Road, New Delhi 110025, 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, Type 12 is an early onset, autosomal recessive retinal disease caused by mutations in RD3. We report the generation of a patient-specific iPSC line (LVPEIi006-B), using Sendai viral vector-based reprogramming approach and an isogenic, mutation-corrected iPSC line (LVPEIi006-B-1), using an en31FnCas9-based adenine base editor (ABE) system. Both lines were clonally expanded and genotyped to confirm the presence of patient-specific mutation and desired base correction in the edited line. Both lines maintained their stemness, pluripotency, genomic integrity and could differentiate into retinal organoids. The mutation-corrected, heterozygous iPSC-derived retinal organoids displayed a partial restoration of normal RD3 mRNA splicing.http://www.sciencedirect.com/science/article/pii/S1873506125000534 |
| spellingShingle | Sudipta Mahato Savitri Maddileti Trupti Agrawal Sundaram Acharya Chitra Kannabiran Subhadra Jalali Debojyoti Chakraborty Indumathi Mariappan Generation and validation of a Leber Congenital Amaurosis, Type 12 patient-specific iPSC line (LVPEIi006-B) with a splice-site mutation in RD3 and an isogenic mutation-corrected iPSC line (LVPEIi006-B-1) Stem Cell Research |
| title | Generation and validation of a Leber Congenital Amaurosis, Type 12 patient-specific iPSC line (LVPEIi006-B) with a splice-site mutation in RD3 and an isogenic mutation-corrected iPSC line (LVPEIi006-B-1) |
| title_full | Generation and validation of a Leber Congenital Amaurosis, Type 12 patient-specific iPSC line (LVPEIi006-B) with a splice-site mutation in RD3 and an isogenic mutation-corrected iPSC line (LVPEIi006-B-1) |
| title_fullStr | Generation and validation of a Leber Congenital Amaurosis, Type 12 patient-specific iPSC line (LVPEIi006-B) with a splice-site mutation in RD3 and an isogenic mutation-corrected iPSC line (LVPEIi006-B-1) |
| title_full_unstemmed | Generation and validation of a Leber Congenital Amaurosis, Type 12 patient-specific iPSC line (LVPEIi006-B) with a splice-site mutation in RD3 and an isogenic mutation-corrected iPSC line (LVPEIi006-B-1) |
| title_short | Generation and validation of a Leber Congenital Amaurosis, Type 12 patient-specific iPSC line (LVPEIi006-B) with a splice-site mutation in RD3 and an isogenic mutation-corrected iPSC line (LVPEIi006-B-1) |
| title_sort | generation and validation of a leber congenital amaurosis type 12 patient specific ipsc line lvpeii006 b with a splice site mutation in rd3 and an isogenic mutation corrected ipsc line lvpeii006 b 1 |
| url | http://www.sciencedirect.com/science/article/pii/S1873506125000534 |
| work_keys_str_mv | AT sudiptamahato generationandvalidationofalebercongenitalamaurosistype12patientspecificipsclinelvpeii006bwithasplicesitemutationinrd3andanisogenicmutationcorrectedipsclinelvpeii006b1 AT savitrimaddileti generationandvalidationofalebercongenitalamaurosistype12patientspecificipsclinelvpeii006bwithasplicesitemutationinrd3andanisogenicmutationcorrectedipsclinelvpeii006b1 AT truptiagrawal generationandvalidationofalebercongenitalamaurosistype12patientspecificipsclinelvpeii006bwithasplicesitemutationinrd3andanisogenicmutationcorrectedipsclinelvpeii006b1 AT sundaramacharya generationandvalidationofalebercongenitalamaurosistype12patientspecificipsclinelvpeii006bwithasplicesitemutationinrd3andanisogenicmutationcorrectedipsclinelvpeii006b1 AT chitrakannabiran generationandvalidationofalebercongenitalamaurosistype12patientspecificipsclinelvpeii006bwithasplicesitemutationinrd3andanisogenicmutationcorrectedipsclinelvpeii006b1 AT subhadrajalali generationandvalidationofalebercongenitalamaurosistype12patientspecificipsclinelvpeii006bwithasplicesitemutationinrd3andanisogenicmutationcorrectedipsclinelvpeii006b1 AT debojyotichakraborty generationandvalidationofalebercongenitalamaurosistype12patientspecificipsclinelvpeii006bwithasplicesitemutationinrd3andanisogenicmutationcorrectedipsclinelvpeii006b1 AT indumathimariappan generationandvalidationofalebercongenitalamaurosistype12patientspecificipsclinelvpeii006bwithasplicesitemutationinrd3andanisogenicmutationcorrectedipsclinelvpeii006b1 |