ID   RCi002-A
AC   CVCL_9S43
SY   RCi92; FP5C-14; EM5-14; PFIZi033-A
DR   BioSamples; SAMEA3105892
DR   EBiSC; RCi002-A
DR   ECACC; 66540049
DR   hPSCreg; RCi002-A
DR   SKIP; SKIP002474
DR   Wikidata; Q54949499
RX   PubMed=27099175;
CC   From: Pfizer, Inc.
CC   From: Roslin Cells, Ltd; UK.
CC   Sequence variation: Heterozygous for SCN9A p.Phe1449Val (c.4345T>G) (PubMed=27099175).
DI   NCIt; C34593; Erythromelalgia
DI   ORDO; Orphanet_90026; Primary erythromelalgia
OX   NCBI_TaxID=9606; ! Homo sapiens
OI   CVCL_9S44 ! RCi002-B
SX   Female
AG   <2Y
CA   Induced pluripotent stem cell
DT   Created: 23-02-16; Last updated: 12-03-20; Version: 9
//
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).
//