Establishment of the induced pluripotent stem cell line SJTUGHi002-A from a CNGA1-related recessive retinitis pigmentosa patient
Summary
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. Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Wu Y, Zhang T, Chen Z, Tang L, Zhang L, Chen J, Wan X, Sun X |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Apr;76:103334 |
| PubMed | 38340451 |
| DOI | 10.1016/j.scr.2024.103334 |