{Reference Type}: Journal Article
{Title}: 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.
{Author}: Pidishetty D;Maddileti S;Mahato S;Agrawal T;Naik M;Kannabiran C;Jalali S;Mariappan I;
{Journal}: Stem Cell Res
{Volume}: 78
{Issue}: 0
{Year}: 2024 Aug 2
{Factor}: 1.587
{DOI}: 10.1016/j.scr.2024.103458
{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.