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
机构：[1]Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab, Beijing, China研究所眼科研究所首都医科大学附属北京同仁医院首都医科大学附属同仁医院
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.
第一作者机构：[1]Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab, Beijing, China
通讯作者：
推荐引用方式(GB/T 7714)：
Tian Lu,Zhang Xiao-hui,Xu Ke,et al.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[J].STEM CELL RESEARCH.2022,64:doi:10.1016/j.scr.2022.102894.
APA：
Tian, Lu,Zhang, Xiao-hui,Xu, Ke&Li, Yang.(2022).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.STEM CELL RESEARCH,64,
MLA：
Tian, Lu,et al."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".STEM CELL RESEARCH 64.(2022)
