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Cellosaurus PFIZi003-A (CVCL_9S33)

[Text version]
Cell line name PFIZi003-A
Synonyms EM2-7M
Accession CVCL_9S33
Resource Identification Initiative To cite this cell line use: PFIZi003-A (RRID:CVCL_9S33)
Comments From: Pfizer, Inc.; New York; USA.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:10597; SCN9A; Simple; p.Ile859Thr (c.2576T>C) (p.Ile848Thr, c.2543T>C); ClinVar=VCV000006350; 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_9S34 ! PFIZi004-A
Sex of cell Male
Age at sampling 4Y
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 databases/resources hPSCreg; PFIZi003-A
SKIP; SKIP002632
Encyclopedic resources Wikidata; Q54947256
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number10