Format

Send to

Choose Destination
Stem Cell Res. 2019 Apr;36:101389. doi: 10.1016/j.scr.2019.101389. Epub 2019 Feb 13.

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

Author information

1
Fundació de Recerca de l'Institut de Microcirurgia Ocular, Barcelona, Spain; Departament de Genètica, Institut de Microcirurgia Ocular (IMO), Barcelona, Spain; Stem Cell Core Facility, Columbia University, New York, NY, USA; Department of Ophthalmology, Columbia University, New York, NY, USA. Electronic address: genetica.riera@imo.es.
2
Stem Cell Core Facility, Columbia University, New York, NY, USA.
3
Fundació de Recerca de l'Institut de Microcirurgia Ocular, Barcelona, Spain; Departament de Retina, Institut de Microcirurgia Ocular (IMO), Barcelona, Spain.
4
Department of Ophthalmology, Columbia University, New York, NY, USA.
5
Fundació de Recerca de l'Institut de Microcirurgia Ocular, Barcelona, Spain; Departament de Genètica, Institut de Microcirurgia Ocular (IMO), Barcelona, Spain. Electronic address: pomares@imo.es.

Abstract

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.

PMID:
30798147
DOI:
10.1016/j.scr.2019.101389
Free full text

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center