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

Di Huang; Dan Zhang; Shang Chih Chen; May Thandar Aung-Htut; Tina M. Lamey; Jennifer A. Thompson; Terri L. McLaren; John N. De Roach; Sue Fletcher; Steve D. Wilton; Samuel McLenachan; Fred K. Chen

doi:10.1016/j.scr.2021.102439

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

Di Huang, Dan Zhang, Shang Chih Chen, May Thandar Aung-Htut, Tina M. Lamey, Jennifer A. Thompson, Terri L. McLaren, John N. De Roach, Sue Fletcher, Steve D. Wilton, Samuel McLenachan, Fred K. Chen

Centre for Ophthalmology and Visual Science (affiliated with the Lions Eye Institute)

Research output: Contribution to journal › Article › peer-review

2 Citations (Scopus)

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.

Original language	English
Article number	102439
Journal	Stem Cell Research
Volume	54
DOIs	https://doi.org/10.1016/j.scr.2021.102439
Publication status	Published - Jul 2021

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This output contributes to the following UN Sustainable Development Goals (SDGs)

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Huang, D., Zhang, D., Chen, S. C., Thandar Aung-Htut, M., Lamey, T. M., Thompson, J. A., McLaren, T. L., De Roach, J. N., Fletcher, S., Wilton, S. D., McLenachan, S., & Chen, F. K. (2021). 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. Stem Cell Research, 54, Article 102439. https://doi.org/10.1016/j.scr.2021.102439

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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",

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.",

author = "Di Huang and Dan Zhang and Chen, {Shang Chih} and {Thandar Aung-Htut}, May and Lamey, {Tina M.} and Thompson, {Jennifer A.} and McLaren, {Terri L.} and {De Roach}, {John N.} and Sue Fletcher and Wilton, {Steve D.} and Samuel McLenachan and Chen, {Fred K.}",

year = "2021",

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doi = "10.1016/j.scr.2021.102439",

language = "English",

volume = "54",

journal = "Stem Cell Research",

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Huang, D, Zhang, D, Chen, SC, Thandar Aung-Htut, M, Lamey, TM, Thompson, JA, McLaren, TL, De Roach, JN, Fletcher, S , Wilton, SD, McLenachan, S & Chen, FK 2021, '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', Stem Cell Research, vol. 54, 102439. https://doi.org/10.1016/j.scr.2021.102439

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AU - Huang, Di

AU - Zhang, Dan

AU - Chen, Shang Chih

AU - Thandar Aung-Htut, May

AU - Lamey, Tina M.

AU - Thompson, Jennifer A.

AU - McLaren, Terri L.

AU - De Roach, John N.

AU - Fletcher, Sue

AU - Wilton, Steve D.

AU - McLenachan, Samuel

AU - Chen, Fred K.

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AB - 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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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

Abstract

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Accelerating the identification and treatment of splice-altering mutations underlying inherited retinal diseases

MRFF - Developing Personalised Treatment for Retinal Degeneration

From discovery to therapy in genetic eye diseases

Cite this

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

Abstract

UN SDGs

Access to Document

Other files and links

Fingerprint

Projects

Accelerating the identification and treatment of splice-altering mutations underlying inherited retinal diseases

MRFF - Developing Personalised Treatment for Retinal Degeneration

From discovery to therapy in genetic eye diseases

Cite this