Generation of the induced pluripotent stem cell line LEIi023-A from a rod-cone dystrophy patient carrying the dominant PRPF31 c.267del variant
The human induced pluripotent stem cell line LEIi023-A was generated from a 51-year-old female patient with retinitis pigmentosa 11 (RP11) caused by a single nucleotide deletion in the PRPF31 gene, (NM 015629.3: c.267del, p.(Glu89Aspfs*11)). Reprogramming the patient dermal fibroblasts was performed...
Saved in:
| Main Authors: | , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-08-01
|
| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506125000558 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850213529668288512 |
|---|---|
| author | Dan Zhang Di Huang Shang-Chih Chen Danial Roshandel Tina M Lamey Jennifer A Thompson Terri L McLaren Fred K Chen Samuel McLenachan |
| author_facet | Dan Zhang Di Huang Shang-Chih Chen Danial Roshandel Tina M Lamey Jennifer A Thompson Terri L McLaren Fred K Chen Samuel McLenachan |
| author_sort | Dan Zhang |
| collection | DOAJ |
| description | The human induced pluripotent stem cell line LEIi023-A was generated from a 51-year-old female patient with retinitis pigmentosa 11 (RP11) caused by a single nucleotide deletion in the PRPF31 gene, (NM 015629.3: c.267del, p.(Glu89Aspfs*11)). Reprogramming the patient dermal fibroblasts was performed using episomal plasmids expressing reprogramming factors: OCT4, SOX2, KLF4, LMYC, LIN28, p53 shRNA and miR-302/367. LEIi023-A displayed expression of pluripotent stem cell markers, a normal karyotype and capability for differentiation of the three germ layers and retinal pigment epithelial cells. |
| format | Article |
| id | doaj-art-c6ee1ef7cd8f405783e2d8aa875c1932 |
| institution | OA Journals |
| issn | 1873-5061 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj-art-c6ee1ef7cd8f405783e2d8aa875c19322025-08-20T02:09:07ZengElsevierStem Cell Research1873-50612025-08-018610370510.1016/j.scr.2025.103705Generation of the induced pluripotent stem cell line LEIi023-A from a rod-cone dystrophy patient carrying the dominant PRPF31 c.267del variantDan Zhang0Di Huang1Shang-Chih Chen2Danial Roshandel3Tina M Lamey4Jennifer A Thompson5Terri L McLaren6Fred K Chen7Samuel McLenachan8Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, AustraliaCentre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, AustraliaOcular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, AustraliaOcular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, AustraliaAustralian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, AustraliaAustralian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, AustraliaCentre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, AustraliaOcular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia; Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia; Department of Ophthalmology, Royal Perth Hospital, Perth, Western Australia, Australia; Department of Ophthalmology, Perth Children’s Hospital, Nedlands, Western Australia, Australia; Corresponding authors at: Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia.Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia; Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia; Corresponding authors at: Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia.The human induced pluripotent stem cell line LEIi023-A was generated from a 51-year-old female patient with retinitis pigmentosa 11 (RP11) caused by a single nucleotide deletion in the PRPF31 gene, (NM 015629.3: c.267del, p.(Glu89Aspfs*11)). Reprogramming the patient dermal fibroblasts was performed using episomal plasmids expressing reprogramming factors: OCT4, SOX2, KLF4, LMYC, LIN28, p53 shRNA and miR-302/367. LEIi023-A displayed expression of pluripotent stem cell markers, a normal karyotype and capability for differentiation of the three germ layers and retinal pigment epithelial cells.http://www.sciencedirect.com/science/article/pii/S1873506125000558 |
| spellingShingle | Dan Zhang Di Huang Shang-Chih Chen Danial Roshandel Tina M Lamey Jennifer A Thompson Terri L McLaren Fred K Chen Samuel McLenachan Generation of the induced pluripotent stem cell line LEIi023-A from a rod-cone dystrophy patient carrying the dominant PRPF31 c.267del variant Stem Cell Research |
| title | Generation of the induced pluripotent stem cell line LEIi023-A from a rod-cone dystrophy patient carrying the dominant PRPF31 c.267del variant |
| title_full | Generation of the induced pluripotent stem cell line LEIi023-A from a rod-cone dystrophy patient carrying the dominant PRPF31 c.267del variant |
| title_fullStr | Generation of the induced pluripotent stem cell line LEIi023-A from a rod-cone dystrophy patient carrying the dominant PRPF31 c.267del variant |
| title_full_unstemmed | Generation of the induced pluripotent stem cell line LEIi023-A from a rod-cone dystrophy patient carrying the dominant PRPF31 c.267del variant |
| title_short | Generation of the induced pluripotent stem cell line LEIi023-A from a rod-cone dystrophy patient carrying the dominant PRPF31 c.267del variant |
| title_sort | generation of the induced pluripotent stem cell line leii023 a from a rod cone dystrophy patient carrying the dominant prpf31 c 267del variant |
| url | http://www.sciencedirect.com/science/article/pii/S1873506125000558 |
| work_keys_str_mv | AT danzhang generationoftheinducedpluripotentstemcelllineleii023afromarodconedystrophypatientcarryingthedominantprpf31c267delvariant AT dihuang generationoftheinducedpluripotentstemcelllineleii023afromarodconedystrophypatientcarryingthedominantprpf31c267delvariant AT shangchihchen generationoftheinducedpluripotentstemcelllineleii023afromarodconedystrophypatientcarryingthedominantprpf31c267delvariant AT danialroshandel generationoftheinducedpluripotentstemcelllineleii023afromarodconedystrophypatientcarryingthedominantprpf31c267delvariant AT tinamlamey generationoftheinducedpluripotentstemcelllineleii023afromarodconedystrophypatientcarryingthedominantprpf31c267delvariant AT jenniferathompson generationoftheinducedpluripotentstemcelllineleii023afromarodconedystrophypatientcarryingthedominantprpf31c267delvariant AT terrilmclaren generationoftheinducedpluripotentstemcelllineleii023afromarodconedystrophypatientcarryingthedominantprpf31c267delvariant AT fredkchen generationoftheinducedpluripotentstemcelllineleii023afromarodconedystrophypatientcarryingthedominantprpf31c267delvariant AT samuelmclenachan generationoftheinducedpluripotentstemcelllineleii023afromarodconedystrophypatientcarryingthedominantprpf31c267delvariant |