Generation of an induced pluripotent stem cell (iPSC) line (IPSCi001-A), from a 40-year-old female patient with occult macular dystrophy carrying the c.133C > T mutation in the RP1L1 gene
Summary
Occult macular dystrophy (OMD) is a hereditary macular disease characterized by no visible macular abnormalities. It is an autosomal dominant disease associated with retinitis pigmentosa 1 like 1 (RP1L1) gene mutation. c.133C > T mutation in the RP1L1 gene is the primary cause of severe visual impairment in OMD patients. The induced pluripotent stem cell (iPSC) line was generated using the integration-free Sendai virus method from peripheral blood mononuclear cells (PBMCs) of a vision-impaired patient harboring heterozygous RP1L1 c.133C > T mutation. This cell line may serve as a cellular model for studying the pathogenic mechanisms of OMD caused by RP1L1 mutation. Copyright © 2025. Published by Elsevier B.V.
| Authors | Wang AG, Huang CY, Cheng HC, Hung WC, Cheng YF |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2026 Jan 10;91:103902 |
| PubMed | 41534124 |
| DOI | 10.1016/j.scr.2025.103902 |