Generation of an iPSC line (IMAGINi022-A) from a patient carrying a SOX10 missense mutation and presenting with deafness, depigmentation and progressive neurological impairment.

Autor:	Banal C; iPS Core Facility, Institut Imagine-Structure Federative de Recherche Necker, INSERM U1163 and INSERM US24/CNRS UMS3633, 75015 Paris, France., Quelennec E; iPS Core Facility, Institut Imagine-Structure Federative de Recherche Necker, INSERM U1163 and INSERM US24/CNRS UMS3633, 75015 Paris, France., Bertani-Torres W; Laboratory of Embryology and Genetics of Human Malformation, Imagine Institute, INSERM UMR 1163, Université de Paris, Paris, France., Gacem N; Laboratory of Embryology and Genetics of Human Malformation, Imagine Institute, INSERM UMR 1163, Université de Paris, Paris, France., Amiel J; Laboratory of Embryology and Genetics of Human Malformation, Imagine Institute, INSERM UMR 1163, Université de Paris, Paris, France., Marlin S; Laboratory of Embryology and Genetics of Human Malformation, Imagine Institute, INSERM UMR 1163, Université de Paris, Paris, France; Fédération de Génétique, Centre de référence des surdités génétiques, Hôpital Necker-Enfants Malades, AP-HP, 75015 Paris, France., Petit F; CHU Lille, Clinique de Génétique Guy Fontaine, F-59000 Lille, France., Pingault V; Laboratory of Embryology and Genetics of Human Malformation, Imagine Institute, INSERM UMR 1163, Université de Paris, Paris, France; Service de génétique Moléculaire, Hopital Necker-Enfants-Malades, 149 rue de Sevres, 75015 Paris, France., Lefort N; iPS Core Facility, Institut Imagine-Structure Federative de Recherche Necker, INSERM U1163 and INSERM US24/CNRS UMS3633, 75015 Paris, France. Electronic address: nathalie.lefort@inserm.fr., Bondurand N; Laboratory of Embryology and Genetics of Human Malformation, Imagine Institute, INSERM UMR 1163, Université de Paris, Paris, France. Electronic address: nadege.bondurand@inserm.fr.
Jazyk:	angličtina
Zdroj:	Stem cell research [Stem Cell Res] 2020 Oct; Vol. 48, pp. 101936. Date of Electronic Publication: 2020 Aug 02.
DOI:	10.1016/j.scr.2020.101936
Abstrakt:	Mutations of SOX10 result in a broad range of phenotypes including Waardenburg syndrome (WS types 2 and 4) that can be found in association with peripheral demyelinating neuropathy and/or central dysmyelinating leukodystrophy. Here, we generated induced pluripotent stem cells (iPSCs) from a patient carrying a de novo heterozygous missense mutation in the SOX10 gene (MIM* 602229, NM006941.3c.523C > G; p.Pro175Ala) presenting with deafness, depigmentation and progressive neurological impairment. Cells were reprogrammed by non-integrative viral transduction from blood sample, have normal karyotype, express pluripotency markers and are able to differentiate into the three germ cell layers. (Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.)
Databáze:	MEDLINE
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