Cellosaurus cell line PFIZi002-A (CVCL_9S32)

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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; 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 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; PFIZi002-A SKIP; SKIP002631
Encyclopedic resources	Wikidata; Q54947255
Entry history
Entry creation	23-Feb-2016
Last entry update	29-Jun-2023
Version number	9