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

Stem cell research - 1 Mar 2026

Xiao Ning, Wu Weijia, Gong Lingxue, Lv Ying, Li Huan, Guo Xiaoxin, Wei Yutong, Zhang Lixin, Zhu Siyu, Li Xiangmei, Gong Bo, Deng Bolin, Ju Xueming

Abstract excerpt

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...

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Identifiers

PMID: 41679029
DOI: 10.1016/j.scr.2026.103914

Genes

CRB1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Generation and characterization of iPSC lines (SPPHIi005-A, SPPHIi006-A, SPPHIi007-A) from a CRB1-mutation associated retinitis pigmentosa family.PMID 41679029Read ↗

Establishment of induced pluripotent stem cell line CSUASOi003- A from an autosomal recessive retinitis pigmentosa patient carrying compound heterozygous mutations in CRB1 gene.Semantic proximity Read ↗

Generation of CRB1 RP Patient-Derived iPSCs and a CRISPR/Cas9-Mediated Homology-Directed Repair Strategy for the CRB1 c.2480G>T Mutation.Semantic proximity Read ↗

Establishment of an induced pluripotent stem cell line from a retinitis pigmentosa patient with compound heterozygous CRB1 mutation.Semantic proximity Read ↗

Generation of two induced pluripotent stem cell lines from a retinitis pigmentosa patient with compound heterozygous mutations in CRB1.Semantic proximity Read ↗

Generation of a homozygous CRISPR/Cas9-mediated knockout H9 hESC subline for the CRB1 locus.Semantic proximity Read ↗

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Establishment of induced pluripotent stem cell line CSUASOi004-A by reprogramming peripheral blood mononuclear cells of a PRPF6-related dominant retinitis pigmentosa patient.Semantic proximity Read ↗

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Generation of a gene-corrected isogenic human iPSC line (CSUASOi006-A-1) from a retinitis pigmentosa patient with heterozygous c.5792C > T mutation in the PRPF8 gene.Semantic proximity Read ↗

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