ID   RCi002-B
AC   CVCL_9S44
SY   RCi93; FP5C-16; EM5-16
DR   BioSamples; SAMEA3106075
DR   EBiSC; RCi002-B
DR   ECACC; 66540050
DR   hPSCreg; RCi002-B
DR   SKIP; SKIP002475
DR   Wikidata; Q54949501
RX   PubMed=27099175;
CC   From: Pfizer, Inc.; New York; USA.
CC   From: Roslin Cells, Ltd; Roslin; United Kingdom.
CC   Sequence variation: Mutation; HGNC; 10597; SCN9A; Simple; p.Phe1460Val (c.4378T>G) (p.Phe1449Val, c.4345T>G); ClinVar=VCV000006352; Zygosity=Heterozygous (PubMed=27099175).
CC   Discontinued: ECACC; 66540050; 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_9S43 ! RCi002-A
SX   Female
AG   <2Y
CA   Induced pluripotent stem cell
DT   Created: 23-02-16; Last updated: 30-01-24; Version: 14
//
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).
//