Cellosaurus cell line PFIZi002-A (CVCL

Cellosaurus PFIZi002-A (CVCL_9S32)

Cross-references
Cell line name	PFIZi002-A
Synonyms	EM1-7M
Accession	CVCL_9S32
Resource Identification Initiative	To cite this cell line use: PFIZi002-A (RRID:CVCL_9S32)
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.Ser241Thr (c.721T>A); ClinVar=VCV000006351; 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_9S31 ! PFIZi001-A
Sex of cell	Female
Age at sampling	17Y
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)
Cell line databases/resources	hPSCreg; PFIZi002-A SKIP; SKIP002631
Encyclopedic resources	Wikidata; Q54947255
Entry history
Entry creation	23-Feb-2016
Last entry update	19-Dec-2024
Version number	10