Generation of two induced pluripotent stem cell lines from a patient with Stargardt Macular Dystrophy caused by the c.768G>T and c.6079C>T mutations in ABCA4


Autosomal recessive Stargardt disease is the most common cause of inherited retinal disease. In this report, we describe the generation and characterization of two human induced pluripotent stem cell (iPSC) lines from a patient with compound heterozygous mutations in the ABCA4 gene (c.[768G>T];[6079C>T]). Patient dermal fibroblasts were reprogrammed using episomal plasmids encoding OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for P53. The clonal iPSC lines LEIi012-A and LEIi012-B were established. Both lines had a normal karyotype, displayed iPSC morphology, expressed pluripotency genes at similar levels to control iPSC and displayed trilineage differentiation potential during embryoid body differentiation. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Jennings L, Zhang D, Chen SC, Moon SY, Lamey T, Thompson JA, McLaren T, De Roach JN, Chen FK, McLenachan S
Journal Stem cell research
Publication Date 2020 Oct;48:101947
PubMed 32810830
DOI 10.1016/j.scr.2020.101947

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