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; 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: 29-06-23; Version: 5
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RX   PubMed=32795927; DOI=10.1016/j.scr.2020.101936;
RA   Banal C., Quelennec E., Bertani-Torres W., Gacem N., Amiel J.,
RA   Marlin S., Petit F., Pingault V., Lefort N., Bondurand N.;
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).
//