ID   PFIZi004-A
AC   CVCL_9S34
SY   EM2-7F
DR   hPSCreg; PFIZi004-A
DR   SKIP; SKIP002633
DR   Wikidata; Q54947257
RX   PubMed=27099175;
CC   From: Pfizer, Inc.
CC   Sequence variation: Mutation; HGNC; 10597; SCN9A; Simple; p.Ile859Thr (c.2576T>C) (p.Ile848Thr, c.2543T>C); ClinVar=VCV000006350; Zygosity=Heterozygous (PubMed=27099175).
CC   Derived from sampling site: Peripheral blood.
DI   NCIt; C34593; Erythromelalgia
DI   ORDO; Orphanet_90026; Primary erythromelalgia
OX   NCBI_TaxID=9606; ! Homo sapiens
OI   CVCL_9S33 ! PFIZi003-A
SX   Male
AG   4Y
CA   Induced pluripotent stem cell
DT   Created: 23-02-16; Last updated: 20-05-21; Version: 7
//
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., 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).
//