ID   PFIZi001-A
AC   CVCL_9S31
SY   EM1-3F; PFIZi026-A
DR   hPSCreg; PFIZi001-A
DR   SKIP; SKIP002630
DR   Wikidata; Q54947254
RX   PubMed=27099175;
CC   From: Pfizer, Inc.
CC   Sequence variation: Heterozygous for SCN9A p.Ser241Thr (c.721T>A) (PubMed=27099175).
DI   NCIt; C34593; Erythromelalgia
OX   NCBI_TaxID=9606; ! Homo sapiens
OI   CVCL_9S32 ! PFIZi002-A
SX   Female
AG   17Y
CA   Induced pluripotent stem cell
DT   Created: 23-02-16; Last updated: 07-09-18; Version: 4
RX   PubMed=27099175; DOI=10.1126/scitranslmed.aad7653;
RA   Cao L., McDonnell A., Nitzsche A., Alexandrou A., Saintot P.-P.,
RA   Loucif A.J.C., Brown A.R., Young G., Mis M., Randall A., Waxman S.G.,
RA   Stanley P., Kirby S., Tarabar S., Gutteridge A., Butt R.,
RA   McKernan R.M., Whiting P., Ali Z., Bilsland J., Stevens E.B.;
RT   "Pharmacological reversal of a pain phenotype in iPSC-derived sensory
RT   neurons and patients with inherited erythromelalgia.";
RL   Sci. Transl. Med. 8:335ra56-335ra56(2016).