Generation of an induced pluripotent stem cell line from a patient with Stargardt disease caused by biallelic c.[5461–10T>C;5603A>T];[6077T>C] mutations in the ABCA4 gene

D. Huang; D. Zhang; S-C Chen; M. Thandar Aung-Htut; T.M. Lamey; J.A. Thompson; T.L. McLaren; J.N. De Roach; S. Fletcher; S.D. Wilton; S. McLenachan; F.K. Chen

doi:10.1016/j.scr.2021.102439

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Generation of an induced pluripotent stem cell line from a patient with Stargardt disease caused by biallelic c.[5461–10T>C;5603A>T];[6077T>C] mutations in the ABCA4 gene

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Generation of an induced pluripotent stem cell line from a patient with Stargardt disease caused by biallelic c.[5461–10T>C;5603A>T];[6077T>C] mutations in the ABCA4 gene

D. Huang, D. Zhang, S-C Chen, M. Thandar Aung-Htut, T.M. Lamey, J.A. Thompson, T.L. McLaren, J.N. De Roach, S. Fletcher, S.D. Wilton, …

Stem Cell Research, Vol.54, Art. 102439

2021

DOI: https://doi.org/10.1016/j.scr.2021.102439

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Abstract

Mutations in ABCA4 gene are causative for autosomal recessive Stargardt disease (STGD1), the most common inherited retinal dystrophy. Here, we report the generation of an induced pluripotent stem cell (iPSC) line from a STGD1 patient carrying biallelic c.[5461–10T>C;5603A>T];[6077T>C] mutations in the ABCA4 gene. Episomes carrying OCT4, SOX2, KLF4, L-MYC, LIN28 and mp53DD were employed for the reprogramming of patient-derived fibroblasts. This iPSC line expressed comparable pluripotency markers as in a commercially available human iPSC line, displayed normal karyotype and potential for trilineage differentiation, and were negative for both reprogramming episomes and mycoplasma test.

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Title: Generation of an induced pluripotent stem cell line from a patient with Stargardt disease caused by biallelic c.[5461–10T>C;5603A>T];[6077T>C] mutations in the ABCA4 gene
Authors/Creators: D. Huang (Author/Creator)
D. Zhang (Author/Creator)
S-C Chen (Author/Creator)
M. Thandar 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)
S. McLenachan (Author/Creator)
F.K. Chen (Author/Creator)
Publication Details: Stem Cell Research, Vol.54, Art. 102439
Publisher: Elsevier B.V.
Identifiers: 991005542425307891
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