ID   UKAi006-A
AC   CVCL_A5MY
SY   IEM 2
DR   BioSamples; SAMEA8268469
DR   hPSCreg; UKAi006-A
DR   Wikidata; Q107117227
RX   PubMed=30720580;
CC   From: Universitatsklinikum Aachen; Aachen; Germany.
CC   Sequence variation: Mutation; HGNC; 10597; SCN9A; Simple; p.Ile859Thr (c.2576T>C) (p.Ile848Thr, c.2543T>C); ClinVar=VCV000006350; Zygosity=Heterozygous (PubMed=30720580).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C34593; Erythromelalgia
DI   ORDO; Orphanet_90026; Primary erythromelalgia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   36Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 30-01-24; Version: 6
//
RX   PubMed=30720580; DOI=10.1097/j.pain.0000000000001511;
RA   Meents J.E., Bressan E., Sontag S., Foerster A., Hautvast P.,
RA   Rosseler C., Hampl M., Schuler H.M., Goetzke R., Le T.K.C.,
RA   Kleggetveit I.P., Le Cann K., Kerth C., Rush A.M., Rogers M., Kohl Z.,
RA   Schmelz M., Wagner W., Jorum E., Namer B., Winner B., Zenke M.,
RA   Lampert A.;
RT   "The role of Nav1.7 in human nociceptors: insights from human induced
RT   pluripotent stem cell-derived sensory neurons of erythromelalgia
RT   patients.";
RL   Pain 160:1327-1341(2019).
//