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...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2020-10-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506120302373 |
| _version_ | 1818215665942659072 |
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| author | Celine Banal Eddy Quelennec William Bertani-Torres Nadjet Gacem Jeanne Amiel Sandrine Marlin Florence Petit Veronique Pingault Nathalie Lefort Nadege Bondurand |
| 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 |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-12T06:39:42Z |
| format | Article |
| id | doaj.art-2fa5e982bd364a4b9e4f1ced9333f53c |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-12-12T06:39:42Z |
| publishDate | 2020-10-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-2fa5e982bd364a4b9e4f1ced9333f53c2022-12-22T00:34:23ZengElsevierStem 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 |
| 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 |
| 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_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_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_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 |
| url | http://www.sciencedirect.com/science/article/pii/S1873506120302373 |
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