ID   CiRA00008
AC   CVCL_RL48
SY   ADPKD_P5-iPSCs
DR   SKIP; SKIP001461
DR   Wikidata; Q54813387
RX   PubMed=27418197;
CC   From: Center for iPS Cell Research and Application, Kyoto University; Kyoto; Japan.
CC   Sequence variation: Mutation; HGNC; HGNC:9008; PKD1; Simple; p.Glu2111Lys (c.6331G>A); ClinVar=VCV001194414; Zygosity=Unspecified (PubMed=27418197).
CC   Sequence variation: Mutation; HGNC; HGNC:9008; PKD1; Simple; p.Arg2327Trp (c.6979C>T); ClinVar=VCV000618812; Zygosity=Unspecified (PubMed=27418197).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=27418197
ST   Amelogenin: X,Y
ST   CSF1PO: 9,11
ST   D13S317: 11,12
ST   D16S539: 9,10
ST   D18S51: 17,21
ST   D21S11: 31,31.2
ST   D3S1358: 15,16
ST   D5S818: 7,12
ST   D7S820: 8,14
ST   D8S1179: 12,14
ST   FGA: 22
ST   Penta D: 9
ST   Penta E: 15,21
ST   TH01: 7
ST   TPOX: 8,11
ST   vWA: 16,17
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   Male
AG   41Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 12
//
RX   PubMed=27418197; DOI=10.1038/srep30013; PMCID=PMC4945931;
RA   Ameku T., Taura D., Sone M., Numata T., Nakamura M., Shiota F.,
RA   Toyoda T., Matsui S., Araoka T., Yasuno T., Mae S.-i., Kobayashi H.,
RA   Kondo N., Kitaoka F., Amano N., Arai S., Ichisaka T., Matsuura N.,
RA   Inoue S., Yamamoto T., Takahashi K., Asaka I., Yamada Y., Ubara Y.,
RA   Muso E., Fukatsu A., Watanabe A., Sato Y., Nakahata T., Mori Y.,
RA   Koizumi A., Nakao K., Yamanaka S., Osafune K.;
RT   "Identification of MMP1 as a novel risk factor for intracranial
RT   aneurysms in ADPKD using iPSC models.";
RL   Sci. Rep. 6:30013-30013(2016).
//