ID   GE#91
AC   CVCL_RL39
SY   GE #91
DR   SKIP; SKIP001742
DR   Wikidata; Q54835539
RX   PubMed=28052261;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:8818; SLC26A4; Simple; p.His723Arg (c.2168A>G); ClinVar=VCV000004825; Zygosity=Heterozygous (PubMed=28052261).
CC   Sequence variation: Mutation; HGNC; HGNC:8818; SLC26A4; Simple_corrected; p.His723Arg (c.2168A>G); ClinVar=VCV000004825; Zygosity=Heterozygous; Note=By TALEN (PubMed=28052261).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C121745; Pendred syndrome
DI   ORDO; Orphanet_705; Pendred syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_RL26 ! PDSH723R01#16
SX   Female
AG   7Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 11
//
RX   PubMed=28052261; DOI=10.1016/j.celrep.2016.12.020;
RA   Hosoya M., Fujioka M., Sone T., Okamoto S., Akamatsu W., Ukai H.,
RA   Ueda H.R., Ogawa K., Matsunaga T., Okano H.;
RT   "Cochlear cell modeling using disease-specific iPSCs unveils a
RT   degenerative phenotype and suggests treatments for congenital
RT   progressive hearing loss.";
RL   Cell Rep. 18:68-81(2017).
//