ID   RCi001-A
AC   CVCL_9S41
SY   RCi88; Thp3C-6; EM3-6
DR   BioSamples; SAMEA3105842
DR   EBiSC; RCi001-A
DR   ECACC; 66540016
DR   hPSCreg; RCi001-A
DR   SKIP; SKIP002466
DR   Wikidata; Q54949496
RX   PubMed=27099175;
CC   From: Pfizer, Inc.
CC   From: Roslin Cells, Ltd; United Kingdom.
CC   Sequence variation: Mutation; HGNC; 10597; SCN9A; Simple; p.Val400Met (c.1198G>A); ClinVar=VCV000538468; 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_9S42 ! RCi001-B
SX   Male
AG   >10Y
CA   Induced pluripotent stem cell
DT   Created: 23-02-16; Last updated: 16-12-21; Version: 12
//
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).
//