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.; New York; USA.
CC   Sequence variation: Mutation; HGNC; 10597; SCN9A; Simple; p.Ser241Thr (c.721T>A); ClinVar=VCV000006351; Zygosity=Heterozygous (PubMed=27099175).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C34593; Erythromelalgia
DI   ORDO; Orphanet_90026; Primary erythromelalgia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_9S32 ! PFIZi002-A
SX   Female
AG   17Y
CA   Induced pluripotent stem cell
DT   Created: 23-02-16; Last updated: 29-06-23; Version: 10
//
RX   PubMed=27099175; DOI=10.1126/scitranslmed.aad7653;
RA   Cao L.-S., 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.J., 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. 8:335ra56.1-335ra56.12(2016).
//