Cellosaurus logo
expasy logo

Cellosaurus CiRA188Ai-M1 (CVCL_T777)

[Text version]
Cell line name CiRA188Ai-M1
Synonyms HPS0119
Accession CVCL_T777
Resource Identification Initiative To cite this cell line use: CiRA188Ai-M1 (RRID:CVCL_T777)
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.Tyr572Cys (c.1715G>A) (p.Tyr570Cys, c.1709A>G); ClinVar=VCV000097946; 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_T778 ! CiRA188Ai-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
Tanaka T., Takahashi K., Yamane M., Tomida S., Nakamura S., Oshima K., Niwa A., Nishikomori R., Kambe N., Hara H., Mitsuyama M., Morone N., Heuser J.E., Yamamoto T., Watanabe A., Sato-Otsubo A., Ogawa S., Asaka I., Heike T., Yamanaka S., Nakahata T., Saito M.K.
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; HPS0119
Cell line databases/resources SKIP; SKIP000173
Encyclopedic resources Wikidata; Q54813414
Entry history
Entry creation03-Feb-2014
Last entry update19-Dec-2024
Version number14