%0 Journal Article
%T Establishment of the induced pluripotent stem cell line SJTUGHi002-A from a CNGA1-related recessive retinitis pigmentosa patient.
%A Wu Y
%A Zhang T
%A Chen Z
%A Tang L
%A Zhang L
%A Chen J
%A Wan X
%A Sun X
%J Stem Cell Res
%V 76
%N 0
%D 2024 Apr 7
%M 38340451
%F 1.587
%R 10.1016/j.scr.2024.103334
%X Retinitis pigmentosa (RP) is the most common inherited retinal diseases, characterized by photoreceptor cell death and retinal pigment epithelial atrophy. Mutations in cyclic nucleotide gated channel subunit alpha 1 (CNGA1) have been reported to cause retinitis pigmentosa. Here, we established the human induced pluripotent stem cell line (iPSC) SJTUGHi002-A, generated from peripheral blood mononuclear cells of a 36-year-old male RP patient, who carried a homozygous frameshift variant in CNGA1 gene (c.265delC; p.L89Ffs*4). The cell line can serve as a patient-derived disease model for exploring the pathogenesis and drug development of CNGA1-RP.