Generation of the induced pluripotent stem cell line from a patient with autosomal recessive ABCA4-mediated Stargardt Macular Dystrophy

Johann Niklas Claassen; Dan Zhang; Shang-Chih Chen; Sang Yoon Moon; Tina  Lamey; Jennifer A. Thompson; Terri McLaren; John De Roach; Samuel McLenachan; Fred Chen

doi:10.1016/j.scr.2018.11.013

Generation of the induced pluripotent stem cell line from a patient with autosomal recessive ABCA4-mediated Stargardt Macular Dystrophy

Johann Niklas Claassen, Dan Zhang, Shang-Chih Chen, Sang Yoon Moon, Tina Lamey, Jennifer A. Thompson, Terri McLaren, John De Roach, Samuel McLenachan, Fred Chen

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

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

8 Citations (Scopus)

Abstract

We report the generation of the human iPSC line LEIi007-A from a patient with autosomal recessive Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene (c.[5461-10 T > C];[4139C > T]). Reprogramming of patient dermal fibroblasts was performed using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, shRNA for p53 and mir302/367 microRNA to establish the clonal iPSC line LEIl007-A. LEIl007-A displayed normal pluripotent stem cell colony morphology, expressed pluripotent stem cell markers, displayed a normal karyotype and differentiated into ectodermal, mesodermal and endodermal germ layer lineages.

Original language	English
Article number	101352
Number of pages	5
Journal	Stem Cell Research
Volume	34
Early online date	30 Nov 2018
DOIs	https://doi.org/10.1016/j.scr.2018.11.013
Publication status	Published - Jan 2019

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10.1016/j.scr.2018.11.013Licence: CC BY-NC-ND

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
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

Cite this

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title = "Generation of the induced pluripotent stem cell line from a patient with autosomal recessive ABCA4-mediated Stargardt Macular Dystrophy",

abstract = "We report the generation of the human iPSC line LEIi007-A from a patient with autosomal recessive Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene (c.[5461-10 T > C];[4139C > T]). Reprogramming of patient dermal fibroblasts was performed using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, shRNA for p53 and mir302/367 microRNA to establish the clonal iPSC line LEIl007-A. LEIl007-A displayed normal pluripotent stem cell colony morphology, expressed pluripotent stem cell markers, displayed a normal karyotype and differentiated into ectodermal, mesodermal and endodermal germ layer lineages.",

author = "Claassen, {Johann Niklas} and Dan Zhang and Shang-Chih Chen and Moon, {Sang Yoon} and Tina Lamey and Thompson, {Jennifer A.} and Terri McLaren and {De Roach}, John and Samuel McLenachan and Fred Chen",

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language = "English",

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T1 - Generation of the induced pluripotent stem cell line from a patient with autosomal recessive ABCA4-mediated Stargardt Macular Dystrophy

AU - Claassen, Johann Niklas

AU - Zhang, Dan

AU - Chen, Shang-Chih

AU - Moon, Sang Yoon

AU - Lamey, Tina

AU - Thompson, Jennifer A.

AU - McLaren, Terri

AU - De Roach, John

AU - McLenachan, Samuel

AU - Chen, Fred

PY - 2019/1

Y1 - 2019/1

N2 - We report the generation of the human iPSC line LEIi007-A from a patient with autosomal recessive Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene (c.[5461-10 T > C];[4139C > T]). Reprogramming of patient dermal fibroblasts was performed using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, shRNA for p53 and mir302/367 microRNA to establish the clonal iPSC line LEIl007-A. LEIl007-A displayed normal pluripotent stem cell colony morphology, expressed pluripotent stem cell markers, displayed a normal karyotype and differentiated into ectodermal, mesodermal and endodermal germ layer lineages.

AB - We report the generation of the human iPSC line LEIi007-A from a patient with autosomal recessive Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene (c.[5461-10 T > C];[4139C > T]). Reprogramming of patient dermal fibroblasts was performed using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, shRNA for p53 and mir302/367 microRNA to establish the clonal iPSC line LEIl007-A. LEIl007-A displayed normal pluripotent stem cell colony morphology, expressed pluripotent stem cell markers, displayed a normal karyotype and differentiated into ectodermal, mesodermal and endodermal germ layer lineages.

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DO - 10.1016/j.scr.2018.11.013

M3 - Article

C2 - 30634128

SN - 1873-5061

VL - 34

JO - Stem Cell Research

JF - Stem Cell Research

M1 - 101352

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Generation of the induced pluripotent stem cell line from a patient with autosomal recessive ABCA4-mediated Stargardt Macular Dystrophy

Abstract

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MRFF - Developing Personalised Treatment for Retinal Degeneration

From discovery to therapy in genetic eye diseases

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