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Generation of human induced pluripotent stem cell lines from a patient with ITM2B-related retinal dystrophy and a non mutated brother.

Stem cell research - 1 Dec 2019

Wohlschlegel Juliette, Letellier Camille, Liu Bingqian, Méjécase Cécile, Slembrouck-Brec Amélie, Condroyer Christel, Michiels Christelle, Sahel José-Alain, Reichman Sacha, Zeitz Christina, Goureau Olivier, Audo Isabelle

Abstract excerpt

Human induced pluripotent stem cell (iPSC) lines were generated from fibroblasts of a patient affected with an autosomal dominant retinal dystrophy carrying the mutation c.782A>C, p.Glu261Ala in ITM2B and from an unaffected brother. Three different iPSC lines were generated and characterized from primary dermal fibroblasts of the affected subject and two from the unaffected brother. All iPSC lines expressed the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 31731182
DOI: 10.1016/j.scr.2019.101625

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Generation of human induced pluripotent stem cell lines from a patient with ITM2B-related retinal dystrophy and a non mutated brother.PMID 31731182Read ↗

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