Generation of two induced pluripotent stem cell lines from a patient with Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene


Stargardt disease (STGD1) is the most common inherited retinal dystrophy and ABCA4 c.546--10 T>C is the most commonly reported splice mutation. Here, we generated and characterized two induced pluripotent stem cell (iPSC) lines from a STGD1 patient with compound heterozygous mutations in ABCA4 (c.[5461-10 T > C;5603A > T];[4163 T > C;455G > A]). Episomal vectors containing OCT4, SOX2, KLF4, L-MYC, LIN28 and mp53DD were employed to conduct the reprogramming of patient-derived fibroblasts. Both lines had a normal karyotype, displayed iPSC morphology, expressed pluripotency markers and showed trilineage differentiation potential. These lines can provide a powerful platform for further investigating the pathophysiological consequences of mutations in ABCA4. Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Huang D, Zhang D, Chen SC, Aung-Htut MT, Lamey TM, Thompson JA, McLaren TL, De Roach JN, Fletcher S, Wilton SD, Chen FK, McLenachan S
Journal Stem cell research
Publication Date 2021 Jul;54:102448
PubMed 34198153
DOI 10.1016/j.scr.2021.102448

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