ID   IBMS-iPSC-014-C
AC   CVCL_ZE87
SY   IBMSi003-A-1
DR   hPSCreg; IBMSi003-A-1
DR   SKIP; SKIP005790
DR   Wikidata; Q98126756
RX   PubMed=32361310;
CC   From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan.
CC   Population: Chinese; Taiwan.
CC   Sequence variation: Mutation; HGNC; 9009; PKD2; Simple_corrected; p.Arg803Ter (c.2407C>T); ClinVar=VCV000618321; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=32361310).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84578; Autosomal dominant polycystic kidney disease
DI   ORDO; Orphanet_730; Autosomal dominant polycystic kidney disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_QY07 ! IBMS-iPSC-014-05
SX   Female
AG   63Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 6
//
RX   PubMed=32361310; DOI=10.1016/j.scr.2020.101784;
RA   Liu C.-L., Huang C.-Y., Chen H.-C., Lu H.-E., Hsieh P.C.-H., Lee J.-J.;
RT   "Generation of a gene corrected human isogenic IBMS-iPSC-014-C from
RT   polycystic-kidney-disease induced pluripotent stem cell line using
RT   CRISPR/Cas9.";
RL   Stem Cell Res. 45:101784-101784(2020).
//