ID   IBMS-iPSC-013-06
AC   CVCL_QY05
SY   IBMSi002-A
DR   BioSamples; SAMEA104387750
DR   hPSCreg; IBMSi002-A
DR   Wikidata; Q54897190
RX   PubMed=29121521;
CC   From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan.
CC   Sequence variation: Heterozygous for PKD1 p.Gln533Ter (c.1597G>T) (PubMed=29121521).
ST   Source(s): PubMed=29121521
ST   Amelogenin: X,Y
ST   CSF1PO: 12
ST   D13S317: 8,9
ST   D16S539: 9,11
ST   D18S51: 13,14
ST   D19S433: 14,14.2
ST   D21S11: 29,30
ST   D2S1338: 19,24
ST   D3S1358: 15,16
ST   D5S818: 9,11
ST   D7S820: 8,11
ST   D8S1179: 12,14
ST   FGA: 18,23
ST   TH01: 7,10
ST   TPOX: 8,11
ST   vWA: 14,17
DI   NCIt; C84578; Autosomal dominant polycystic kidney disease
OX   NCBI_TaxID=9606; ! Homo sapiens
OI   CVCL_RP79 ! IBMS-iPSC-013-07
SX   Male
AG   37Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 07-09-18; Version: 3
//
RX   PubMed=29121521; DOI=10.1016/j.scr.2017.10.026;
RA   Lee J.-J., Ho M.-C., Huang C.-Y., Wen C.-H., Cheng Y.-C., Hsu Y.-H.,
RA   Hwang D.-Y., Lu H.-E., Chen H.-C., Hsieh P.C.-H.;
RT   "Induced pluripotent stem cells derived from an autosomal dominant
RT   polycystic kidney disease patient carrying a PKD1 Q533X mutation.";
RL   Stem Cell Res. 25:83-87(2017).
//