ID   CiRA00010
AC   CVCL_RL50
SY   ADPKD_P7-iPSCs
DR   SKIP; SKIP001463
DR   Wikidata; Q54813389
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.Asp2273Alafs*145 (c.6818_6819delAC) (7024delAC); 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
ST   CSF1PO: 9,12
ST   D13S317: 11
ST   D16S539: 12,13
ST   D18S51: 14,15
ST   D21S11: 30,32.2
ST   D3S1358: 15,16
ST   D5S818: 10,11
ST   D7S820: 12
ST   D8S1179: 10
ST   FGA: 20,25
ST   Penta D: 9,12
ST   Penta E: 11,15
ST   TH01: 7,9
ST   TPOX: 8,9
ST   vWA: 17,18
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   69Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 11
//
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).
//