ID   IBMS-iPSC-012-12
SY   IBMSi001-A
DR   BCRC; SC81042
DR   BCRC; SC81043
DR   BioSamples; SAMEA104387150
DR   hPSCreg; IBMSi001-A
DR   Wikidata; Q54897189
RX   PubMed=29034881;
CC   From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan.
CC   Sequence variation: Heterozygous for PKD1 p.Ser1457fs (c.Chr16:2160801_2delTC) (PubMed=29034881).
ST   Source(s): PubMed=29034881
ST   Amelogenin: X,Y
ST   CSF1PO: 9,10
ST   D13S317: 11,12
ST   D16S539: 10,11
ST   D18S51: 16,18
ST   D19S433: 14
ST   D21S11: 30,31
ST   D2S1338: 22,23
ST   D3S1358: 16
ST   D5S818: 10,12
ST   D7S820: 11,12
ST   D8S1179: 14
ST   FGA: 22
ST   TH01: 7,9
ST   TPOX: 8,11
ST   vWA: 18,20
DI   NCIt; C84578; Autosomal dominant polycystic kidney disease
DI   ORDO; Orphanet_730; Autosomal dominant polycystic kidney disease
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Male
AG   35Y
CA   Induced pluripotent stem cell
DT   Created: 15-11-17; Last updated: 12-03-20; Version: 4
RX   PubMed=29034881; DOI=10.1016/j.scr.2017.09.004;
RA   Huang C.-Y., Ho M.-C., Lee J.-J., Hwang D.-Y., Ko H.-W., Cheng Y.-C.,
RA   Hsu Y.-H., Lu H.-E., Chen H.-C., Hsieh P.C.-H.;
RT   "Generation of induced pluripotent stem cells derived from an
RT   autosomal dominant polycystic kidney disease patient with a
RT   p.Ser1457fs mutation in PKD1.";
RL   Stem Cell Res. 24:139-143(2017).