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
en 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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Exones
/
Codón sin Sentido
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Transportadoras de Casetes de Unión a ATP
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Células Madre Pluripotentes Inducidas
/
Enfermedad de Stargardt
Límite:
Humans
Idioma:
En
Revista:
Stem Cell Res
Año:
2024
Tipo del documento:
Article
País de afiliación:
India