ID   IBMS-iPSC-014-05
AC   CVCL_QY07
SY   IBMSi003-A
DR   BCRC; SC81046
DR   BCRC; SC81047
DR   BioSamples; SAMEA104387752
DR   hPSCreg; IBMSi003-A
DR   SKIP; SKIP005633
DR   SKIP; SKIP005634
DR   Wikidata; Q54897192
RX   PubMed=29055226;
CC   From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan.
CC   Population: Chinese; Taiwan.
CC   Sequence variation: Mutation; HGNC; 9009; PKD2; Simple; p.Arg803Ter (c.2407C>T); ClinVar=VCV000618321; Zygosity=Heterozygous (PubMed=29055226).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=29055226
ST   Amelogenin: X
ST   CSF1PO: 12,13
ST   D13S317: 10,11
ST   D16S539: 9,11
ST   D18S51: 14
ST   D19S433: 13
ST   D21S11: 29,30
ST   D2S1338: 19,24
ST   D3S1358: 15,17
ST   D5S818: 11
ST   D7S820: 8
ST   D8S1179: 14,15
ST   FGA: 21,24
ST   TH01: 8,9
ST   TPOX: 9,11
ST   vWA: 14
DI   NCIt; C84578; Autosomal dominant polycystic kidney disease
DI   ORDO; Orphanet_730; Autosomal dominant polycystic kidney disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   63Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 29-06-23; Version: 9
//
RX   PubMed=29055226; DOI=10.1016/j.scr.2017.10.005;
RA   Ho M.-C., Huang C.-Y., Lee J.-J., Hsu S.-H., Cheng Y.-C., Hsu Y.-H.,
RA   Hwang D.-Y., Lu H.-E., Chen H.-C., Hsieh P.C.-H.;
RT   "Generation of an induced pluripotent stem cell line,
RT   IBMS-iPSC-014-05, from a female autosomal dominant polycystic kidney
RT   disease patient carrying a common mutation of R803X in PKD2.";
RL   Stem Cell Res. 25:38-41(2017).
//