ID   TYWHSTi002-A
AC   CVCL_YT48
DR   BioSamples; SAMEA6930346
DR   hPSCreg; TYWHSTi002-A
DR   Wikidata; Q98133706
RX   PubMed=32717573;
CC   From: Tianyou Hospital, Wuhan University of Science and Technology; Wuhan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 8818; SLC26A4; Simple; c.919-2A>G (IVS7AS,A-G,-2); ClinVar=VCV000004840; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=32717573).
CC   Sequence variation: Mutation; HGNC; 8818; SLC26A4; Simple; c.1614+1G>A; ClinVar=VCV000043516; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=32717573).
CC   Omics: Deep exome analysis.
CC   Derived from sampling site: Peripheral blood.
DI   NCIt; C121745; Pendred syndrome
DI   ORDO; Orphanet_705; Pendred syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Female
AG   30Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 20-05-21; Version: 5
//
RX   PubMed=32717573; DOI=10.1016/j.scr.2020.101919;
RA   Chen X.-S., Yang Y., Luo L.-Q., Xu L.-J., Liu B., Jiang G.-F., Hu X.-M.,
RA   Zeng Y., Wang Z.-Y.;
RT   "An iPSC line (TYWHSTi002-A) derived from a patient with Pendred
RT   syndrome caused by compound heterozygous mutations in the SLC26A4
RT   gene.";
RL   Stem Cell Res. 47:101919-101919(2020).
//