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

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

Stem Cell Research (Dec 2019)

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

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

Affiliations

Juliette Wohlschlegel: INSERM, CNRS, Institut de la Vision, Sorbonne Université, 17 rue Moreau, Paris, F-75012, France; Corresponding authors at: Institut de la Vision, 17 rue Moreau, Paris, F-75012, France.
Camille Letellier: INSERM, CNRS, Institut de la Vision, Sorbonne Université, 17 rue Moreau, Paris, F-75012, France
Bingqian Liu: INSERM, CNRS, Institut de la Vision, Sorbonne Université, 17 rue Moreau, Paris, F-75012, France
Cécile Méjécase: INSERM, CNRS, Institut de la Vision, Sorbonne Université, 17 rue Moreau, Paris, F-75012, France
Amélie Slembrouck-Brec: INSERM, CNRS, Institut de la Vision, Sorbonne Université, 17 rue Moreau, Paris, F-75012, France
Christel Condroyer: INSERM, CNRS, Institut de la Vision, Sorbonne Université, 17 rue Moreau, Paris, F-75012, France
Christelle Michiels: INSERM, CNRS, Institut de la Vision, Sorbonne Université, 17 rue Moreau, Paris, F-75012, France
José-Alain Sahel: INSERM, CNRS, Institut de la Vision, Sorbonne Université, 17 rue Moreau, Paris, F-75012, France; CHNO des Quinze-Vingts, INSERM-DGOS CIC 1423, 28 rue de Charenton, Paris, F-75012, France; Fondation Ophtalmologique Adolphe de Rothschild, Paris, F-75019, France; Académie des Sciences-Institut de France, Paris, F-75006, France; Department of Ophthalmology, The University of Pittsburgh School of Medicine, Pittsburg, PA, 15213, United States
Sacha Reichman: INSERM, CNRS, Institut de la Vision, Sorbonne Université, 17 rue Moreau, Paris, F-75012, France
Christina Zeitz: INSERM, CNRS, Institut de la Vision, Sorbonne Université, 17 rue Moreau, Paris, F-75012, France
Olivier Goureau: INSERM, CNRS, Institut de la Vision, Sorbonne Université, 17 rue Moreau, Paris, F-75012, France
Isabelle Audo: INSERM, CNRS, Institut de la Vision, Sorbonne Université, 17 rue Moreau, Paris, F-75012, France; CHNO des Quinze-Vingts, INSERM-DGOS CIC 1423, 28 rue de Charenton, Paris, F-75012, France; Corresponding authors at: Institut de la Vision, 17 rue Moreau, Paris, F-75012, France.

Journal volume & issue: Vol. 41

Abstract

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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 pluripotency markers, were able to differentiate into the three germ layers and presented normal karyotypes. This cellular model will provide a powerful tool to study this retinal dystrophy and better understand the role of ITM2B.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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