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Generation of the induced pluripotent stem cell line BTHBIOi002-A derived from a USH2 patient with c.2512C>T and c.2802T>G mutations in USH2A gene.

Stem cell research - 1 Apr 2026

Xia Xi-Xi, Pan Deng, Jin Zi-Bing

Abstract excerpt

Mutation in USH2A gene cause autosomal recessive retinitis pigmentosa (RP) and Usher syndrome type II (USH2), constituting over 50% of USH2 and approximately 7% of RP. Here, we report the establishment of a human induced pluripotent stem cell (iPSC) line, BTHBIOi002-A, derived from the peripheral blood mononuclear cells (PBMCs) of a USH2 patient with compound heterozygous mutation in USH2A (c.[2512C>T];...

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Source

Identifiers

PMID: 41763034
DOI: 10.1016/j.scr.2026.103935

Genes

USH2A
KLF4
NANOG
SOX2

Variants

Provenance

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

Related research

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Research trail→

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Generation of the induced pluripotent stem cell line BTHBIOi002-A derived from a USH2 patient with c.2512C>T and c.2802T>G mutations in USH2A gene.PMID 41763034Read ↗

Establishment of iPS cell line (KLRMMEi002-A) by reprogramming peripheral blood mononuclear cells from a patient with USH2A-associated Usher syndrome.Semantic proximity Read ↗

Generation of the induced pluripotent stem cell line SFMUi001-A from a patient with usher syndrome type 2 caused by biallelic variants in the USH2A gene.Semantic proximity Read ↗

Generation of two human induced pluripotent stem cell lines from patients with biallelic USH2A variants.Semantic proximity Read ↗

Establishment of iPS cell line (KLRMMEi003-A) from a patient with Usher syndrome due to USH2A mutation.Semantic proximity Read ↗

Generation of a human iPSC line, INMi005-A, from a patient with non-syndromic USH2A-associated retinitis pigmentosa.Semantic proximity Read ↗

Generation and characterization of a human iPSC line (JUFMDOi007-A) from a patient with Usher syndrome due to mutation in USH2A.Semantic proximity Read ↗

Establishment of a human iPSC line, IISHDOi004-A, from a patient with Usher syndrome associated with the mutation c.2276G>T; p.Cys759Phe in the USH2A gene.Semantic proximity Read ↗

Generation of an induced pluripotent stem cell line (SJTUGHi001-A) from a patient with Retinitis Pigmentosa carrying c.77C > T mutation in RAX2 gene.Semantic proximity Read ↗

Derivation of a human induced pluripotent stem cell line (QBRIi007-A) from a patient carrying a homozygous intronic mutation (c.613-7T>G) in the SLC2A2 gene.Semantic proximity Read ↗

Establishment of an iPSC line (JTUi002-A) from a patient with Waardenburg syndrome caused by a SOX10 mutation and carrying a GJB2 mutation.Semantic proximity Read ↗

Modeling Retinitis Pigmentosa: Retinal Organoids Generated From the iPSCs of a Patient With the USH2A Mutation Show Early Developmental AbnormalitiesSemantic proximity Read ↗

Generation of four induced pluripotent stem cell lines (FHUi003-A, FHUi003-B, FHUi004-A and FHUi004-B) from two affected individuals of a familial neurohypophyseal diabetes insipidus family.Semantic proximity Read ↗

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