ID   SMBCi013-A
AC   CVCL_B3SJ
SY   WD-iPSC
DR   BioSamples; SAMEA10107503
DR   hPSCreg; SMBCi013-A
DR   Wikidata; Q110433240
RX   PubMed=34995846;
CC   From: Shandong Medical Biotechnological Center; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 870; ATP7B; Simple; p.Ser975Tyr (c.2924C>A) (p.Ser768Tyr, c.2303C>A); ClinVar=VCV000862055; Zygosity=Heterozygous (PubMed=34995846).
CC   Sequence variation: Mutation; HGNC; 870; ATP7B; Simple; p.Arg1319Ter (c.3955C>T) (p.Arg1112Ter, c.3334C>T); ClinVar=VCV000035728; Zygosity=Heterozygous (PubMed=34995846).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
DI   NCIt; C84756; Hepatolenticular degeneration
DI   ORDO; Orphanet_905; Wilson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   29Y
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34995846; DOI=10.1016/j.scr.2021.102650;
RA   Zhao Y.-N., Cui Y.-Z., Luan J., Wang J., Shi L., Han Z.-Z., Han J.-X.;
RT   "Development and identification of a induced pluripotent stem cells
RT   line (SMBCi013-A) derived from urine cells of a patient with Wilson's
RT   disease.";
RL   Stem Cell Res. 59:102650-102650(2022).
//