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Cellosaurus RCi002-A (CVCL_9S43)

[Text version]
Cell line name RCi002-A
Synonyms RCi92; FP5C-14; EM5-14; PFIZi033-A
Accession CVCL_9S43
Resource Identification Initiative To cite this cell line use: RCi002-A (RRID:CVCL_9S43)
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; 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_9S44 ! RCi002-B
Sex of cell Female
Age at sampling <2Y
Category Induced pluripotent stem cell
Publications

PubMed=27099175; DOI=10.1126/scitranslmed.aad7653
Cao L.-S., McDonnell A., Nitzsche A., Alexandrou A., Saintot P.-P., Loucif A.J.C., Brown A.R., Young G., Mis M., Randall A., Waxman S.G., Stanley P., Kirby S., Tarabar S., Gutteridge A., Butt R., McKernan R.M., Whiting P.J., Ali Z., Bilsland J., Stevens E.B.
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-A
ECACC; 66540049 - Discontinued
Cell line databases/resources hPSCreg; RCi002-A
SKIP; SKIP002474
Biological sample resources BioSamples; SAMEA3105892
Encyclopedic resources Wikidata; Q54949499
Entry history
Entry creation23-Feb-2016
Last entry update30-Jan-2024
Version number15