ID   UKWNLi003-A
AC   CVCL_VR98
SY   SCN10A-A-T365N-iPSC
DR   hPSCreg; UKWNLi003-A
DR   Wikidata; Q98134005
RX   PubMed=30731422;
CC   From: Department of Neurology, University of Wurzburg; Wurzburg; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 10582; SCN10A; Simple; p.Thr365Asn (c.1094C>A); dbSNP=rs754960592; Zygosity=Heterozygous (PubMed=30731422).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C125389; Small fiber neuropathy
DI   ORDO; Orphanet_306577; Sodium channelopathy-related small fiber neuropathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   58Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 29-06-23; Version: 7
//
RX   PubMed=30731422; DOI=10.1016/j.scr.2019.101396;
RA   Klein T., Klug K., Henkel L., Kwok C.K., Edenhofer F., Klopocki E.,
RA   Kurth I., Uceyler N.;
RT   "Generation of two induced pluripotent stem cell lines from skin
RT   fibroblasts of sisters carrying a c.1094C>A variation in the SCN10A
RT   gene potentially associated with small fiber neuropathy.";
RL   Stem Cell Res. 35:101396-101396(2019).
//