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Generation of an ipsc line (imagini022-a) ...
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Document type :
Article dans une revue scientifique: Article original
DOI :
10.1016/j.scr.2020.101936
PMID :
32795927
Permalink :
http://hdl.handle.net/20.500.12210/55386
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
Author(s) :
Banal, Celine [Auteur]
Quelennec, Eddy [Auteur]
Bertani-Torres, William [Auteur]
Gacem, Nadjet [Auteur]
Amiel, Jeanne [Auteur]
Marlin, Sandrine [Auteur]
Petit, Florence [Auteur] refId
Pingault, Veronique [Auteur]
Lefort, Nathalie [Auteur]
Bondurand, Nadege [Auteur]
Journal title :
Stem cell research
Abbreviated title :
Stem Cell Res
Volume number :
48
Pages :
101936
Publication date :
2020-08-02
ISSN :
1876-7753
HAL domain(s) :
Sciences du Vivant [q-bio]
English abstract : [en]
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. ...
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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.Show less >
Language :
Anglais
Audience :
Internationale
Popular science :
Non
Administrative institution(s) :
Université de Lille
Collections :
  • Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364
Submission date :
2021-09-02T07:01:40Z
Université de Lille

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