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.; New York; USA.
CC   From: Roslin Cells, Ltd; Roslin; United Kingdom.
CC   Sequence variation: Mutation; HGNC; HGNC:10597; SCN9A; Simple; p.Val400Met (c.1198G>A); ClinVar=VCV000538468; Zygosity=Heterozygous (PubMed=27099175).
CC   Discontinued: ECACC; 66540016; true.
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_9S42 ! RCi001-B
SX   Male
AG   >10Y
CA   Induced pluripotent stem cell
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 16
//
RX   PubMed=27099175; DOI=10.1126/scitranslmed.aad7653;
RA   Cao, Li-Shuang
RA   McDonnell, Aoibhinn
RA   Nitzsche, Anja
RA   Alexandrou, Aristos
RA   Saintot, Pierre-Philippe
RA   Loucif, Alexandre J.C.
RA   Brown, Adam R.
RA   Young, Gareth
RA   Mis, Malgorzata
RA   Randall, Andrew
RA   Waxman, Stephen George
RA   Stanley, Philip
RA   Kirby, Simon
RA   Tarabar, Sanela
RA   Gutteridge, Alexander
RA   Butt, Richard
RA   McKernan, Ruth Mitchell
RA   Whiting, Paul J.
RA   Ali, Zahid
RA   Bilsland, James
RA   Stevens, Edward 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).
//