ID   CiRA00004
AC   CVCL_RL44
SY   ADPKD_P1-iPSCs
DR   SKIP; SKIP001423
DR   Wikidata; Q54813383
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; c.2986-15C>T; ClinVar=VCV000256939; Zygosity=Unspecified (PubMed=27418197).
CC   Sequence variation: Mutation; HGNC; HGNC:9008; PKD1; Simple; c.8161+38G>A; ClinVar=VCV000440080; 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: 12
ST   D13S317: 8
ST   D16S539: 12,13
ST   D18S51: 13,22
ST   D21S11: 29,33.2
ST   D3S1358: 16,17
ST   D5S818: 12,13
ST   D7S820: 12
ST   D8S1179: 11,15
ST   FGA: 21,22
ST   Penta D: 9,12
ST   Penta E: 19,21
ST   TH01: 6
ST   TPOX: 9,10
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   45Y
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).
//