ID   CSUXHEi001-A
AC   CVCL_C4S9
DR   BioSamples; SAMEA110640177
DR   hPSCreg; CSUXHEi001-A
DR   Wikidata; Q116048807
RX   PubMed=36126472;
CC   From: Xiangya Hospital of Central South University; Changsha; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 8818; SLC26A4; Simple; p.Ser517Phefs*10 (c.1547dupC) (c.1545_1546insC); ClinVar=VCV000188759; Zygosity=Heterozygous (PubMed=36126472).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   37Y
CA   Induced pluripotent stem cell
DT   Created: 15-12-22; Last updated: 29-06-23; Version: 3
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RX   PubMed=36126472; DOI=10.1016/j.scr.2022.102916;
RA   Li S.-J., He C.-F., Feng Q., Bai Y.-J., Liu X.-L., Ling J., Mei L.-Y.,
RA   Wu X.-W., Feng Y., Song J.;
RT   "Establishment of two iPSC lines from healthy donor with heterozygous
RT   mutation in the SLC26A4 gene.";
RL   Stem Cell Res. 64:102916-102916(2022).
//