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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
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; HPS0117
Cell line databases/resources SKIP; SKIP000171
Encyclopedic resources Wikidata; Q54813408
Entry history
Entry creation03-Feb-2014
Last entry update19-Dec-2024
Version number13