Journal article
Generation of two induced pluripotent stem cell lines from a patient with Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene
Stem Cell Research, Vol.54, Art. 102448
2021
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.
Details
- Title
- Generation of two induced pluripotent stem cell lines from a patient with Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene
- Authors/Creators
- D. Huang (Author/Creator)D. Zhang (Author/Creator)S-C Chen (Author/Creator)M.T. Aung-Htut (Author/Creator)T.M. Lamey (Author/Creator)J.A. Thompson (Author/Creator)T.L. McLaren (Author/Creator)J.N. De Roach (Author/Creator)S. Fletcher (Author/Creator)S.D. Wilton (Author/Creator)F.K. Chen (Author/Creator)S. McLenachan (Author/Creator)
- Publication Details
- Stem Cell Research, Vol.54, Art. 102448
- Publisher
- Elsevier B.V.
- Identifiers
- 991005542147707891
- Copyright
- © 2021 The Author(s).
- Murdoch Affiliation
- Centre for Molecular Medicine and Innovative Therapeutics; Health Futures Institute
- Language
- English
- Resource Type
- Journal article
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- Collaboration types
- Domestic collaboration
- Citation topics
- 1 Clinical & Life Sciences
- 1.36 Ophthalmology
- 1.36.212 Genetic Retinopathies
- Web Of Science research areas
- Biotechnology & Applied Microbiology
- Cell & Tissue Engineering
- Cell Biology
- ESI research areas
- Molecular Biology & Genetics