Generation of an induced pluripotent stem cell line from a patient with Stargardt disease caused by biallelic c.[5461-10T>C;5603A>T];[6077T>C] mutations in the ABCA4 gene
Summary
Mutations in ABCA4 gene are causative for autosomal recessive Stargardt disease (STGD1), the most common inherited retinal dystrophy. Here, we report the generation of an induced pluripotent stem cell (iPSC) line from a STGD1 patient carrying biallelic c.[5461-10T>C;5603A>T];[6077T>C] mutations in the ABCA4 gene. Episomes carrying OCT4, SOX2, KLF4, L-MYC, LIN28 and mp53DD were employed for the reprogramming of patient-derived fibroblasts. This iPSC line expressed comparable pluripotency markers as in a commercially available human iPSC line, displayed normal karyotype and potential for trilineage differentiation, and were negative for both reprogramming episomes and mycoplasma test. Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Huang D, Zhang D, Chen SC, Thandar Aung-Htut M, Lamey TM, Thompson JA, McLaren TL, De Roach JN, Fletcher S, Wilton SD, McLenachan S, Chen FK |
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| Journal | Stem cell research |
| Publication Date | 2021 Jul;54:102439 |
| PubMed | 34214897 |
| DOI | 10.1016/j.scr.2021.102439 |