Format

Send to

Choose Destination
Stem Cell Res. 2019 Nov 5;41:101625. doi: 10.1016/j.scr.2019.101625. [Epub ahead of print]

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

Author information

1
INSERM, CNRS, Institut de la Vision, Sorbonne Université, 17 rue Moreau, Paris, F-75012, France. Electronic address: Juliette.wohlschlgel@inserm.fr.
2
INSERM, CNRS, Institut de la Vision, Sorbonne Université, 17 rue Moreau, Paris, F-75012, France.
3
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.
4
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. Electronic address: Isabelle.audo@inserm.fr.

Abstract

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.

PMID:
31731182
DOI:
10.1016/j.scr.2019.101625
Free full text

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center