Cellosaurus cell line PFIZi001-A (CVCL

Cross-references
Cell line name	PFIZi001-A
Synonyms	EM1-3F; PFIZi026-A
Accession	CVCL_9S31
Resource Identification Initiative	To cite this cell line use: PFIZi001-A (RRID:CVCL_9S31)
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_9S32 ! PFIZi002-A
Sex of cell	Female
Age at sampling	17Y
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)
Cell line databases/resources	hPSCreg; PFIZi001-A SKIP; SKIP002630
Encyclopedic resources	Wikidata; Q54947254
Entry history
Entry creation	23-Feb-2016
Last entry update	19-Dec-2024
Version number	11