ID   CiRA188Ai-M1
AC   CVCL_T777
SY   HPS0119
DR   RCB; HPS0119
DR   SKIP; SKIP000173
DR   Wikidata; Q54813414
RX   PubMed=22723549;
CC   From: Center for iPS Cell Research and Application, Kyoto University; Kyoto; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:16400; NLRP3; Simple; p.Tyr572Cys (c.1715G>A) (p.Tyr570Cys, c.1709A>G); ClinVar=VCV000097946; Zygosity=Heterozygous; Note=Somatic mosaicism (PubMed=22723549).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C116380; Chronic infantile neurological cutaneous and articular syndrome
DI   ORDO; Orphanet_1451; CINCA syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_T778 ! CiRA188Ai-W1
SX   Male
AG   10-19Y
CA   Induced pluripotent stem cell
DT   Created: 03-02-14; Last updated: 19-12-24; Version: 14
//
RX   PubMed=22723549; DOI=10.1182/blood-2012-03-417881;
RA   Tanaka, Takayuki
RA   Takahashi, Kazutoshi
RA   Yamane, Mayu
RA   Tomida, Shota
RA   Nakamura, Saori
RA   Oshima, Koichi
RA   Niwa, Akira
RA   Nishikomori, Ryuta
RA   Kambe, Naotomo
RA   Hara, Hideki
RA   Mitsuyama, Masao
RA   Morone, Nobuhiro
RA   Heuser, John Edward
RA   Yamamoto, Takuya
RA   Watanabe, Akira
RA   Sato-Otsubo, Aiko
RA   Ogawa, Seishi
RA   Asaka, Isao
RA   Heike, Toshio
RA   Yamanaka, Shinya
RA   Nakahata, Tatsutoshi
RA   Saito, Megumu K.
RT   "Induced pluripotent stem cells from CINCA syndrome patients as a
RT   model for dissecting somatic mosaicism and drug discovery.";
RL   Blood 120:1299-1308(2012).
//