March 3, 2026Open Access

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

Key Points

The hiPSC lines show potential for modeling CRB1-associated retinal pigmentosa, revealing insights into disease mechanisms.
Two lines carry a CRB1 variant (c.1997 T > A), crucial for understanding genotype-phenotype relationships in retinal disease.
Analysis of the iPSC lines confirmed normal karyotypes alongside differentiation capabilities into three germ layers, indicating their viability as models.
These established cell lines may enable future studies and therapeutic strategies targeting the CRB1 mutation, improving RP outcomes.

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.

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

Key Points

Abstract

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