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]
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. ...
Show more >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