ID   UUIGPi006-A
AC   CVCL_WT83
SY   UUIGPi006A; DD1C; DRS1C
DR   hPSCreg; UUIGPi006-A
DR   Wikidata; Q98134417
RX   PubMed=31400703;
CC   From: Department of Immunology, Genetics and Pathology, Uppsala University; Uppsala; Sweden.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 10585; SCN1A; Simple; p.Pro1837fs (c.5502_5509dupGCTTGAAC); Zygosity=Heterozygous (PubMed=31400703).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C147071; Developmental and epileptic encephalopathy 6A
DI   ORDO; Orphanet_33069; Dravet syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   17Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 29-06-23; Version: 12
//
RX   PubMed=31400703; DOI=10.1016/j.scr.2019.101523;
RA   Schuster J., Fatima A., Sobol M., Norradin F.H., Laan L., Dahl N.;
RT   "Generation of three human induced pluripotent stem cell (iPSC) lines
RT   from three patients with Dravet syndrome carrying distinct SCN1A gene
RT   mutations.";
RL   Stem Cell Res. 39:101523-101523(2019).
//