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Cellosaurus PFIZi004-A (CVCL_9S34)

[Text version]

Cell line name PFIZi004-A
Synonyms EM2-7F
Accession CVCL_9S34
Resource Identification Initiative To cite this cell line use: PFIZi004-A (RRID:CVCL_9S34)
Comments From: Pfizer, Inc.
Derived from sampling site: Peripheral blood.
Sequence variations Mutation; 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_9S33 ! PFIZi003-A
Sex of cell Male
Age at sampling 4Y
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., 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 databases/resources hPSCreg; PFIZi004-A
SKIP; SKIP002633
Other Wikidata; Q54947257
Entry history
Entry creation23-Feb-2016
Last entry update20-May-2021
Version number7