%0 Journal Article
%T 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.
%A Pidishetty D
%A Maddileti S
%A Mahato S
%A Agrawal T
%A Naik M
%A Kannabiran C
%A Jalali S
%A Mariappan I
%J Stem Cell Res
%V 78
%N 0
%D 2024 Aug 2
%M 38870564
%F 1.587
%R 10.1016/j.scr.2024.103458
%X 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.