ID   PFIZi003-A
AC   CVCL_9S33
SY   EM2-7M
DR   hPSCreg; PFIZi003-A
DR   SKIP; SKIP002632
DR   Wikidata; Q54947256
RX   PubMed=27099175;
CC   From: Pfizer, Inc.; New York; USA.
CC   Sequence variation: Mutation; HGNC; HGNC:10597; SCN9A; Simple; p.Ile859Thr (c.2576T>C) (p.Ile848Thr, c.2543T>C); ClinVar=VCV000006350; 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_9S34 ! PFIZi004-A
SX   Male
AG   4Y
CA   Induced pluripotent stem cell
DT   Created: 23-02-16; Last updated: 19-12-24; 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).
//