Generation and characterization of iPSC lines (SPPHIi005-A, SPPHIi006-A, SPPHIi007-A) from a CRB1-mutation associated retinitis pigmentosa family
Summary
Mutations in the Crumbs homolog 1 (CRB1) gene are associated with autosomal recessive retinal pigmentosa (RP). We derived two human-induced pluripotent stem cell (hiPSC) lines, SPPHIi006-A and SPPHIi007-A, from a consanguineous family affected by RP. These lines carry either a homozygous or heterozygous CRB1 variant c.1997 T > A (p.V666D). Additionally, we established a hiPSC line, SPPHIi005-A, from a healthy family member without the CRB1 mutation to serve as a normal control (HC). All three hiPSC lines demonstrated normal karyotypes, cell morphology, hiPSC markers, and differentiation into three germ layers. These hiPSC lines offer valuable models for exploring therapeutic strategies for CRB1-associated RP. Copyright © 2026 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Xiao N, Wu W, Gong L, Lv Y, Li H, Guo X, Wei Y, Zhang L, Zhu S, Li X, Gong B, Deng B, Ju X |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2026 Feb 1;91:103914 |
| PubMed | 41679029 |
| DOI | 10.1016/j.scr.2026.103914 |