Projects per year
Abstract
Stargardt disease (STGD1) is the most common inherited retinal dystrophy and ABCA4 c.546-–10 T>C is the most commonly reported splice mutation. Here, we generated and characterized two induced pluripotent stem cell (iPSC) lines from a STGD1 patient with compound heterozygous mutations in ABCA4 (c.[5461-10 T > C;5603A > T];[4163 T > C;455G > A]). Episomal vectors containing OCT4, SOX2, KLF4, L-MYC, LIN28 and mp53DD were employed to conduct the reprogramming of patient-derived fibroblasts. Both lines had a normal karyotype, displayed iPSC morphology, expressed pluripotency markers and showed trilineage differentiation potential. These lines can provide a powerful platform for further investigating the pathophysiological consequences of mutations in ABCA4.
Original language | English |
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Article number | 102448 |
Journal | Stem Cell Research |
Volume | 54 |
DOIs | |
Publication status | Published - Jul 2021 |
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Dive into the research topics of 'Generation of two induced pluripotent stem cell lines from a patient with Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene'. Together they form a unique fingerprint.Projects
- 3 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