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


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. Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Claassen JN, Zhang D, Chen SC, Moon SY, Lamey T, Thompson JA, McLaren T, De Roach JN, McLenachan S, Chen FK
Journal Stem cell research
Publication Date 2019 Jan;34:101352
PubMed 30634128
DOI 10.1016/j.scr.2018.11.013

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