Induced Pluripotent Stem Cells Retinitis Pigmentosa

We investigated retinitis pigmentosa rp caused by a mutation in the gene rhodopsin rho with a patient specific rod cell model generated from induced pluripotent stem cells ipscs derived from an rp patient to generate the ipscs and to avoid the unpredictable side effects associated with retrovirus integration at random loci in the host genome a nonintegrating sendai virus vector was.

Induced pluripotent stem cells retinitis pigmentosa.

R457x and c 2027c t p t676m. Two novel treatments for retinitis pigmentosa move closer to clinical trials date. Epub 2018 feb 7. Patient derived ipscs however would still harbor disease causing mutations.

Mutant crb1 causes leber s congenital amaurosis lca and retinitis pigmentosa rp. Retinitis pigmentosa rp is a rare genetic disorders that involves a breakdown and loss of cells in retinal cells. Fibroblasts from a patient with splicing factor retinitis pigmentosa caused by a missense mutation in the prpf8 splicing factor were used to produce three diseased and three crispr cas9 corrected induced pluripotent stem cell ipsc clones. Induced pluripotent stem cells ipscs were generated from a 10 year old male with early onset non syndromic rp caused by novel compound heterozygous mutations in crb1 nm 001257965.

The human ipsc line leii006 a was generated from dermal fibroblasts from a patient with retinitis pigmentosa using episomal plasmids containing oct4 sox2 klf4 l myc lin28 mir302 367 microrna and shrna for p53 the ipsc cells carry compound heterozygous mutations c 1892a g and c 2548g a in the crb1 gene. We differentiated each of these clones into retinal pigment epithelial rpe cells via directed. December 20 2012. Induced pluripotent stem cells ipscs generated from patient fibroblasts could potentially be used as a source of autologous cells for transplantation in retinal disease.

To generate healthy patient derived cells mutatio. One involving skin derived induced pluripotent stem ips cell grafts the other gene. Long term safety and efficacy of human induced pluripotent stem cell ips grafts in a preclinical model of retinitis pigmentosa yao li 1 2 yi ting tsai 1 2 chun wei hsu 1 2 deniz erol 1 2 jin yang 1 2 wen hsuan wu 1 2 richard j davis 1 2 dieter egli 3 and stephen h tsang 1 2 4 5. Leii006 a expressed pluripotent stem cell markers had a normal karyotype and.