Induced pluripotent stem cell line BIOi003-A from a patient with ABCA4-associated retinal dystrophy carrying compound heterozygous c.(1222C>T;2919-884G>T) variants in ABCA4
oleh: Lu Tian, Xiao-hui Zhang, Ke Xu, Yang Li
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2022-10-01 |
Deskripsi
ABCA4-associated retinal dystrophy is the most frequent inherited retinal dystrophy caused by biallelic variants in ABCA4 gene. We induced a new pluripotent stem cell line (BIOi003-A) from peripheral blood mononuclear cells (PBMCs) of a 14-year-old patient who carried the compound heterozygous variants c.(1222C>T;2919-884G>T) p.[Arg408Ter;Phe973LeufsTer3,=] in ABCA4. This line helps model the disease pathophysiology in vitro and construct 3D models for drug discovery.