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Cellosaurus PFIZi001-A (CVCL_9S31)

[Text version]

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.
Sequence variations Heterozygous for SCN9A p.Ser241Thr (c.721T>A) (PubMed=27099175).
Disease Erythromelalgia (NCIt: C34593)
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., 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. 8:335ra56-335ra56(2016)

Cross-references
Cell line databases/resources hPSCreg; PFIZi001-A
SKIP; SKIP002630
Other Wikidata; Q54947254