Generation of two iPS cell lines (FRIMOi003-A and FRIMOi004-A) derived from Stargardt patients carrying ABCA4 compound heterozygous mutations.
Stem Cell Res
; 36: 101389, 2019 04.
Article
in En
| MEDLINE
| ID: mdl-30798147
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Cell Line
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ATP-Binding Cassette Transporters
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Induced Pluripotent Stem Cells
/
Stargardt Disease
Limits:
Humans
Language:
En
Journal:
Stem Cell Res
Year:
2019
Document type:
Article