ID   RCi001-B
AC   CVCL_9S42
SY   RCi89; Thp3C-9
DR   BioSamples; SAMEA3106040
DR   EBiSC; RCi001-B
DR   ECACC; 66540048
DR   hPSCreg; RCi001-B
DR   SKIP; SKIP002467
DR   Wikidata; Q54949498
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_9S41 ! RCi001-A
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).
//