Generation of two iPS cell lines (FRIMOi003-A and FRIMOi004-A) derived from Stargardt patients carrying ABCA4 compound heterozygous mutations

Summary

Recessive Stargardt disease (STGD1) is an autosomal recessive retinal dystrophy, caused by mutations in the retina-specific ATP-binding cassette transporter (ABCA4) gene, which plays a role as a retinaldehyde flippase in the photoreceptor outer segments. In this work, two human induced pluripotent stem cell (iPSC) lines were generated from STGD1 patients carrying compound heterozygous mutations in ABCA4. Skin fibroblasts were reprogrammed with the Yamanaka factors using a non-integrating, Sendai virus-based approach. Both iPSC lines displayed typical embryonic stem cell morphology, had normal karyotype, expressed several pluripotency markers and were able to differentiate into all three germ layers. Resource table. Copyright © 2019. Published by Elsevier B.V.

Authors Riera M, Patel A, Burés-Jelstrup A, Corcostegui B, Chang S, Pomares E, Corneo B, Sparrow JR
Journal Stem cell research
Publication Date 2019 Feb 13;36:101389
PubMed 30798147
DOI 10.1016/j.scr.2019.101389

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