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Cellosaurus CiRA086Ai-m1 (CVCL_T776)

[Text version]
Cell line name CiRA086Ai-m1
Synonyms HPS0117
Accession CVCL_T776
Resource Identification Initiative To cite this cell line use: CiRA086Ai-m1 (RRID:CVCL_T776)
Comments From: Center for iPS Cell Research and Application, Kyoto University; Kyoto; Japan.
Population: Japanese.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:16400; NLRP3; Simple; p.Gly309Ser (c.925G>A) (p.Gly307Ser, c.919G>A); Zygosity=Heterozygous; Note=Somatic mosaicism (PubMed=22723549).
Disease Chronic infantile neurological cutaneous and articular syndrome (NCIt: C116380)
CINCA syndrome (ORDO: Orphanet_1451)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_Y542 ! CiRA086Ai-w1
Sex of cell Male
Age at sampling 10-19Y
Category Induced pluripotent stem cell
Publications

PubMed=22723549; DOI=10.1182/blood-2012-03-417881
Takayuki Tanaka, Kazutoshi Takahashi, Mayu Yamane, Shota Tomida, Saori Nakamura, Koichi Oshima, Akira Niwa, Ryuta Nishikomori, Naotomo Kambe, Hideki Hara, Masao Mitsuyama ...Show all 22 authors... , Nobuhiro Morone, John Edward Heuser, Takuya Yamamoto, Akira Watanabe, Aiko Sato-Otsubo, Seishi Ogawa, Isao Asaka, Toshio Heike, Shinya Yamanaka, Tatsutoshi Nakahata, Megumu K. Saito; Show fewer authors
Induced pluripotent stem cells from CINCA syndrome patients as a model for dissecting somatic mosaicism and drug discovery.
Blood 120:1299-1308(2012)

Cross-references
Cell line collections (Providers) RCB; HPS0117
Cell line databases/resources SKIP; SKIP000171
Encyclopedic resources Wikidata; Q54813408
Entry history
Entry creation03-Feb-2014
Last entry update19-Dec-2024
Version number13