Projects per year
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.
Original language | English |
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Article number | 103461 |
Number of pages | 5 |
Journal | Stem Cell Research |
Volume | 78 |
Early online date | 8 Jun 2024 |
DOIs | |
Publication status | Published - Aug 2024 |
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Dive into the research topics of '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'. Together they form a unique fingerprint.Projects
- 4 Finished
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Accelerating the identification and treatment of splice-altering mutations underlying inherited retinal diseases
Chen, F. (Investigator 01), Fletcher, S. (Investigator 02), McLenachan, S. (Investigator 03) & Cunningham, P. (Investigator 04)
NHMRC National Health and Medical Research Council
1/01/20 → 31/12/24
Project: Research
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MRFF - Developing Personalised Treatment for Retinal Degeneration
Chen, F. (Investigator 01)
NHMRC National Health and Medical Research Council
1/01/18 → 31/12/21
Project: Research
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From discovery to therapy in genetic eye diseases
Mackey, D. (Investigator 01), Craig, J. (Investigator 02), Hewitt, A. (Investigator 03), Burdon, K. (Investigator 04), Jamieson, R. (Investigator 05), Grigg, J. (Investigator 06), MacGregor, S. (Investigator 07), Chen, F. (Investigator 08), Otlowski, M. (Investigator 09) & Schofield, D. (Investigator 10)
NHMRC National Health and Medical Research Council
1/01/16 → 31/12/20
Project: Research