Generation and characterization of a Stargardt's disease-specific induced pluripotent stem cell line (LVPEIi008-A) with a homozygous nonsense mutation in exon 44 of ABCA4.
Stem Cell Res
; 78: 103458, 2024 Aug.
Article
in En
| MEDLINE
| ID: mdl-38870564
ABSTRACT
The Stargardt's Disease, Type 1 (STGD1) is associated with the loss of function mutations in ABCA4. This gene codes for a retina-specific, ATP-binding cassette (ABC) family transporter, involved in the transport of the key visual cycle intermediate, all-trans-retinaldehyde (atRAL), across the photoreceptor cell membranes. Here, we report the establishment of a patient-specific, iPSC line (LVPEIi008-A), that carries a homozygous nonsense mutation at (c.6088C > T) position, within exon 44 of ABCA4. The patient-specific skin fibroblasts were reprogrammed using episomal plasmids and the stably expanding iPSC line expressed the key stemness and pluripotency markers, maintained its chromosomal integrity and tested negative for mycoplasma.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Exons
/
Codon, Nonsense
/
ATP-Binding Cassette Transporters
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Induced Pluripotent Stem Cells
/
Stargardt Disease
Limits:
Humans
Language:
En
Journal:
Stem Cell Res
Year:
2024
Document type:
Article
Affiliation country:
Country of publication: