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Cellosaurus CiRA00005 (CVCL_RL45)

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Cell line name CiRA00005
Synonyms ADPKD_P2-iPSCs
Accession CVCL_RL45
Resource Identification Initiative To cite this cell line use: CiRA00005 (RRID:CVCL_RL45)
Comments From: Center for iPS Cell Research and Application, Kyoto University; Kyoto; Japan.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:9008; PKD1; Simple; p.Trp429Ser (c.1286G>C); Zygosity=Unspecified (PubMed=27418197).
  • Mutation; HGNC; HGNC:9008; PKD1; Simple; p.Ser2235Leu (c.6704C>T); Zygosity=Unspecified (PubMed=27418197).
  • Mutation; HGNC; HGNC:9008; PKD1; Simple; p.Val3008Met (c.9022G>A); ClinVar=VCV000811571; Zygosity=Unspecified (PubMed=27418197).
  • Mutation; HGNC; HGNC:9008; PKD1; Simple; p.Ser3405Tyr (c.10214C>A) (p.Ser3404Tyr, c.10211C>A); Zygosity=Unspecified (PubMed=27418197).
Disease Autosomal dominant polycystic kidney disease (NCIt: C84578)
Autosomal dominant polycystic kidney disease (ORDO: Orphanet_730)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 64Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=27418197

Markers:
AmelogeninX
CSF1PO7,9
D3S135815,16
D5S81811,12
D7S82010,12
D8S117911,16
D13S3178,11
D16S5399,12
D18S5114,16
D21S1129,31
FGA20,22
Penta D11
Penta E12,16
TH019
TPOX8,11
vWA16,18

Run an STR similarity search on this cell line
Publications

PubMed=27418197; DOI=10.1038/srep30013; PMCID=PMC4945931
Tomonaga Ameku, Daisuke Taura, Masakatsu Sone, Tomohiro Numata, Masahiro Nakamura, Fumihiko Shiota, Taro Toyoda, Satoshi Matsui, Toshikazu Araoka, Tetsuhiko Yasuno, Shin-ichi Mae ...Show all 34 authors... , Hatasu Kobayashi, Naoya Kondo, Fumiyo Kitaoka, Naoki Amano, Sayaka Arai, Tomoko Ichisaka, Norio Matsuura, Sumiko Inoue, Takuya Yamamoto, Kazutoshi Takahashi, Isao Asaka, Yasuhiro Yamada, Yoshifumi Ubara, Eri Muso, Atsushi Fukatsu, Akira Watanabe, Yasunori Sato, Tatsutoshi Nakahata, Yasuo Mori, Akio Koizumi, Kazuwa Nakao, Shinya Yamanaka, Kenji Osafune; Show fewer authors
Identification of MMP1 as a novel risk factor for intracranial aneurysms in ADPKD using iPSC models.
Sci. Rep. 6:30013.1-30013.14(2016)

Cross-references
Cell line databases/resources SKIP; SKIP001459
Encyclopedic resources Wikidata; Q54813384
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number12