Cellosaurus logo
expasy logo

Cellosaurus RCi002-B (CVCL_9S44)

[Text][XML][JSON]
Cell line name RCi002-B
Synonyms RCi93; FP5C-16; EM5-16
Accession CVCL_9S44
Resource Identification Initiative To cite this cell line use: RCi002-B (RRID:CVCL_9S44)
Comments From: Pfizer, Inc.; New York; USA.
From: Roslin Cells, Ltd; Roslin; United Kingdom.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:10597; SCN9A; Simple; p.Phe1460Val (c.4378T>G) (p.Phe1449Val, c.4345T>G); ClinVar=VCV000006352; Zygosity=Heterozygous (PubMed=27099175).
Disease Erythromelalgia (NCIt: C34593)
Primary erythromelalgia (ORDO: Orphanet_90026)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_9S43 ! RCi002-A
Sex of cell Female
Age at sampling <2Y
Category Induced pluripotent stem cell
Publications

PubMed=27099175; DOI=10.1126/scitranslmed.aad7653
Li-Shuang Cao, Aoibhinn McDonnell, Anja Nitzsche, Aristos Alexandrou, Pierre-Philippe Saintot, Alexandre J.C. Loucif, Adam R. Brown, Gareth Young, Malgorzata Mis, Andrew Randall, Stephen George Waxman ...Show all 21 authors... , Philip Stanley, Simon Kirby, Sanela Tarabar, Alexander Gutteridge, Richard Butt, Ruth Mitchell McKernan, Paul J. Whiting, Zahid Ali, James Bilsland, Edward B. Stevens; Show fewer authors
Pharmacological reversal of a pain phenotype in iPSC-derived sensory neurons and patients with inherited erythromelalgia.
Sci. Transl. Med. 8:335ra56.1-335ra56.12(2016)

Cross-references
Cell line collections (Providers) EBiSC; RCi002-B
ECACC; 66540050 - Discontinued
Cell line databases/resources hPSCreg; RCi002-B
SKIP; SKIP002475
Biological sample resources BioSamples; SAMEA3106075
Encyclopedic resources Wikidata; Q54949501
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number15