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; 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: 29-06-23; Version: 13
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RX   PubMed=22723549; DOI=10.1182/blood-2012-03-417881;
RA   Tanaka T., Takahashi K., Yamane M., Tomida S., Nakamura S., Oshima K.,
RA   Niwa A., Nishikomori R., Kambe N., Hara H., Mitsuyama M., Morone N.,
RA   Heuser J.E., Yamamoto T., Watanabe A., Sato-Otsubo A., Ogawa S.,
RA   Asaka I., Heike T., Yamanaka S., Nakahata T., Saito M.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).
//