ID   IMAGINi022-A
AC   CVCL_A9SY
SY   IMAGINE022
DR   BioSamples; SAMEA7248743
DR   hPSCreg; IMAGINi022-A
DR   Wikidata; Q102114219
RX   PubMed=32795927;
CC   From: Imagine Institute; Paris; France.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11190; SOX10; Simple; p.Pro175Ala (c.523C>G); Zygosity=Heterozygous (PubMed=32795927).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C85222; Waardenburg syndrome
DI   ORDO; Orphanet_3440; Waardenburg syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   20Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 6
//
RX   PubMed=32795927; DOI=10.1016/j.scr.2020.101936;
RA   Banal, Celine
RA   Quelennec, Eddy
RA   Bertani-Torres, William
RA   Gacem, Nadjet
RA   Amiel, Jeanne
RA   Marlin, Sandrine
RA   Petit, Florence
RA   Pingault, Veronique
RA   Lefort, Nathalie
RA   Bondurand, Nadege
RT   "Generation of an iPSC line (IMAGINi022-A) from a patient carrying a
RT   SOX10 missense mutation and presenting with deafness, depigmentation
RT   and progressive neurological impairment.";
RL   Stem Cell Res. 48:101936-101936(2020).
//