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

Research output: Contribution to journalArticle

2 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 languageEnglish
Article number101352
Number of pages5
JournalStem Cell Research
Volume34
Early online date30 Nov 2018
DOIs
Publication statusPublished - Jan 2019

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    National Health & Medical Research Council NHMRC

    1/01/1631/12/20

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