. 2024 Aug:78:103461.

doi: 10.1016/j.scr.2024.103461. Epub 2024 Jun 3.

Establishment of an induced pluripotent stem cell line LEIi019-A from an early-onset retinal dystrophy patient with the autosomal dominant OTX2 c.259G>A variant

Dan Zhang¹, Luke Jennings¹, Shang-Chih Chen¹, Khine Zaw¹, Tina M Lamey², Jennifer A Thompson², Terri L McLaren³, Fred K Chen⁴, Samuel McLenachan⁵

Affiliations

¹ Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia.
² Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.
³ Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, 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.
⁴ Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia; Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, 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. Electronic address: fred.chen@lei.org.au.
⁵ Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia; Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, Western Australia, Australia. Electronic address: samuel.mclenachan@lei.org.au.

PMID: 38852423
DOI: 10.1016/j.scr.2024.103461

Free article

Establishment of an induced pluripotent stem cell line LEIi019-A from an early-onset retinal dystrophy patient with the autosomal dominant OTX2 c.259G>A variant

Dan Zhang et al. Stem Cell Res. 2024 Aug.

Free article

. 2024 Aug:78:103461.

doi: 10.1016/j.scr.2024.103461. Epub 2024 Jun 3.

Authors

Dan Zhang¹, Luke Jennings¹, Shang-Chih Chen¹, Khine Zaw¹, Tina M Lamey², Jennifer A Thompson², Terri L McLaren³, Fred K Chen⁴, Samuel McLenachan⁵

Affiliations

¹ Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia.
² Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.
³ Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, 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.
⁴ Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia; Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, 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. Electronic address: fred.chen@lei.org.au.
⁵ Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia; Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, Western Australia, Australia. Electronic address: samuel.mclenachan@lei.org.au.

PMID: 38852423
DOI: 10.1016/j.scr.2024.103461

Abstract

The human induced pluripotent stem cell (iPSC) line LEIi019-A was generated from a patient with early-onset pattern dystrophy caused by a heterozygous mutation NM_001270525.1:c.259G>A (p.Glu87Lys) in OTX2. Patient-derived dermal fibroblasts were reprogrammed using episomal plasmids containing reprogramming factors OCT4, SOX2, KLF4, MYCL, LIN28, TP53 shRNA and miR-302/367. The iPSC line expressed pluripotency markers, displayed a normal 46,XY karyotype and demonstrated the ability to differentiate into the three primary germ layers, retinal organoids and retinal pigment epithelial cells.

PubMed Disclaimer

Conflict of interest statement

Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

Cited by

Retinal Organoids from Induced Pluripotent Stem Cells of Patients with Inherited Retinal Diseases: A Systematic Review.
Lee YJ, Jo DH. Lee YJ, et al. Stem Cell Rev Rep. 2025 Jan;21(1):167-197. doi: 10.1007/s12015-024-10802-7. Epub 2024 Oct 18. Stem Cell Rev Rep. 2025. PMID: 39422807 Free PMC article.
Human-based complex in vitro models: their promise and potential for rare disease therapeutics.
Parvatam S, Pistollato F, Marshall LJ, Furtmann F, Jahagirdar D, Chakraborty Choudhury M, Mohanty S, Mittal H, Meganathan S, Mishra R. Parvatam S, et al. Front Cell Dev Biol. 2025 Jan 27;13:1526306. doi: 10.3389/fcell.2025.1526306. eCollection 2025. Front Cell Dev Biol. 2025. PMID: 39931243 Free PMC article. Review.

References

Publication types

Actions

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions

Substances

Actions
Actions
Actions
Actions

LinkOut - more resources

Full Text Sources
- Elsevier Science
Research Materials
- NCI CPTC Antibody Characterization Program
Miscellaneous
- NCI CPTAC Assay Portal

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

Establishment of an induced pluripotent stem cell line LEIi019-A from an early-onset retinal dystrophy patient with the autosomal dominant OTX2 c.259G>A variant

Affiliations

Establishment of an induced pluripotent stem cell line LEIi019-A from an early-onset retinal dystrophy patient with the autosomal dominant OTX2 c.259G>A variant

Authors

Affiliations

Abstract

Conflict of interest statement

Similar articles

Cited by

References

Publication types

MeSH terms

Substances

LinkOut - more resources

Full Text Sources

Research Materials

Miscellaneous

Abstract

Conflict of interest statement

Similar articles

Cited by

References

Publication types

MeSH terms

Substances

Related information

LinkOut - more resources

Full Text Sources

Research Materials

Miscellaneous