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

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

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...

Full description

Bibliographic Details
Main Authors: Celine Banal, Eddy Quelennec, William Bertani-Torres, Nadjet Gacem, Jeanne Amiel, Sandrine Marlin, Florence Petit, Veronique Pingault, Nathalie Lefort, Nadege Bondurand
Format: Article
Language:English
Published: Elsevier 2020-10-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506120302373
id doaj-2fa5e982bd364a4b9e4f1ced9333f53c
record_format Article
spelling doaj-2fa5e982bd364a4b9e4f1ced9333f53c2020-11-25T02:26:16ZengElsevierStem Cell Research1873-50612020-10-0148101936Generation of an iPSC line (IMAGINi022-A) from a patient carrying a SOX10 missense mutation and presenting with deafness, depigmentation and progressive neurological impairmentCeline Banal0Eddy Quelennec1William Bertani-Torres2Nadjet Gacem3Jeanne Amiel4Sandrine Marlin5Florence Petit6Veronique Pingault7Nathalie Lefort8Nadege Bondurand9iPS Core Facility, Institut Imagine-Structure Federative de Recherche Necker, INSERM U1163 and INSERM US24/CNRS UMS3633, 75015 Paris, FranceiPS Core Facility, Institut Imagine-Structure Federative de Recherche Necker, INSERM U1163 and INSERM US24/CNRS UMS3633, 75015 Paris, FranceLaboratory of Embryology and Genetics of Human Malformation, Imagine Institute, INSERM UMR 1163, Université de Paris, Paris, FranceLaboratory of Embryology and Genetics of Human Malformation, Imagine Institute, INSERM UMR 1163, Université de Paris, Paris, FranceLaboratory of Embryology and Genetics of Human Malformation, Imagine Institute, INSERM UMR 1163, Université de Paris, Paris, FranceLaboratory 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, FranceCHU Lille, Clinique de Génétique Guy Fontaine, F-59000 Lille, FranceLaboratory 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, FranceiPS Core Facility, Institut Imagine-Structure Federative de Recherche Necker, INSERM U1163 and INSERM US24/CNRS UMS3633, 75015 Paris, France; Corresponding authors at: UMR-1163 INSERM, Institut Imagine (Laboratoire d'Embryologie et Génétique des Malformations), France (N. Bondurand). Institut Imagine (iPS core platform), 24 Boulevard du Montparnasse 75015 Paris, France (N. Lefort).Laboratory of Embryology and Genetics of Human Malformation, Imagine Institute, INSERM UMR 1163, Université de Paris, Paris, France; Corresponding authors at: UMR-1163 INSERM, Institut Imagine (Laboratoire d'Embryologie et Génétique des Malformations), France (N. Bondurand). Institut Imagine (iPS core platform), 24 Boulevard du Montparnasse 75015 Paris, France (N. Lefort).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.http://www.sciencedirect.com/science/article/pii/S1873506120302373
collection DOAJ
language English
format Article
sources DOAJ
author Celine Banal
Eddy Quelennec
William Bertani-Torres
Nadjet Gacem
Jeanne Amiel
Sandrine Marlin
Florence Petit
Veronique Pingault
Nathalie Lefort
Nadege Bondurand
spellingShingle Celine Banal
Eddy Quelennec
William Bertani-Torres
Nadjet Gacem
Jeanne Amiel
Sandrine Marlin
Florence Petit
Veronique Pingault
Nathalie Lefort
Nadege Bondurand
Generation of an iPSC line (IMAGINi022-A) from a patient carrying a SOX10 missense mutation and presenting with deafness, depigmentation and progressive neurological impairment
Stem Cell Research
author_facet Celine Banal
Eddy Quelennec
William Bertani-Torres
Nadjet Gacem
Jeanne Amiel
Sandrine Marlin
Florence Petit
Veronique Pingault
Nathalie Lefort
Nadege Bondurand
author_sort Celine Banal
title Generation of an iPSC line (IMAGINi022-A) from a patient carrying a SOX10 missense mutation and presenting with deafness, depigmentation and progressive neurological impairment
title_short Generation of an iPSC line (IMAGINi022-A) from a patient carrying a SOX10 missense mutation and presenting with deafness, depigmentation and progressive neurological impairment
title_full Generation of an iPSC line (IMAGINi022-A) from a patient carrying a SOX10 missense mutation and presenting with deafness, depigmentation and progressive neurological impairment
title_fullStr Generation of an iPSC line (IMAGINi022-A) from a patient carrying a SOX10 missense mutation and presenting with deafness, depigmentation and progressive neurological impairment
title_full_unstemmed Generation of an iPSC line (IMAGINi022-A) from a patient carrying a SOX10 missense mutation and presenting with deafness, depigmentation and progressive neurological impairment
title_sort generation of an ipsc line (imagini022-a) from a patient carrying a sox10 missense mutation and presenting with deafness, depigmentation and progressive neurological impairment
publisher Elsevier
series Stem Cell Research
issn 1873-5061
publishDate 2020-10-01
description 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.
url http://www.sciencedirect.com/science/article/pii/S1873506120302373
work_keys_str_mv AT celinebanal generationofanipsclineimagini022afromapatientcarryingasox10missensemutationandpresentingwithdeafnessdepigmentationandprogressiveneurologicalimpairment
AT eddyquelennec generationofanipsclineimagini022afromapatientcarryingasox10missensemutationandpresentingwithdeafnessdepigmentationandprogressiveneurologicalimpairment
AT williambertanitorres generationofanipsclineimagini022afromapatientcarryingasox10missensemutationandpresentingwithdeafnessdepigmentationandprogressiveneurologicalimpairment
AT nadjetgacem generationofanipsclineimagini022afromapatientcarryingasox10missensemutationandpresentingwithdeafnessdepigmentationandprogressiveneurologicalimpairment
AT jeanneamiel generationofanipsclineimagini022afromapatientcarryingasox10missensemutationandpresentingwithdeafnessdepigmentationandprogressiveneurologicalimpairment
AT sandrinemarlin generationofanipsclineimagini022afromapatientcarryingasox10missensemutationandpresentingwithdeafnessdepigmentationandprogressiveneurologicalimpairment
AT florencepetit generationofanipsclineimagini022afromapatientcarryingasox10missensemutationandpresentingwithdeafnessdepigmentationandprogressiveneurologicalimpairment
AT veroniquepingault generationofanipsclineimagini022afromapatientcarryingasox10missensemutationandpresentingwithdeafnessdepigmentationandprogressiveneurologicalimpairment
AT nathalielefort generationofanipsclineimagini022afromapatientcarryingasox10missensemutationandpresentingwithdeafnessdepigmentationandprogressiveneurologicalimpairment
AT nadegebondurand generationofanipsclineimagini022afromapatientcarryingasox10missensemutationandpresentingwithdeafnessdepigmentationandprogressiveneurologicalimpairment
_version_ 1724848247575412736

Similar Items