Work

Generation and characterization of iPSC lines (SPPHIi005-A, SPPHIi006-A, SPPHIi007-A) from a CRB1-mutation associated retinitis pigmentosa family

Year: 2026

Type: article

Abstract: 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.

Source: Stem Cell Research

DOI: 10.1016/j.scr.2026.103914