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
Summary
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. Copyright © 2024 Hyderabad Eye Research Foundation, LV Prasad Eye Institute. Published by Elsevier B.V. All rights reserved.
| Authors | Pidishetty D, Maddileti S, Mahato S, Agrawal T, Naik M, Kannabiran C, Jalali S, Mariappan I |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Aug;78:103458 |
| PubMed | 38870564 |
| DOI | 10.1016/j.scr.2024.103458 |