ID   UUIGPi008-A
AC   CVCL_WT85
SY   UUIGPi008A; DD5A; DRS5A
DR   hPSCreg; UUIGPi008-A
RX   PubMed=31400703;
CC   From: Department of Immunology, Genetics and Pathology, Uppsala University; Uppsala; Sweden.
CC   Sequence variation: Heterozygous for SCN1A p.Thr217Arg (c.651C>G) (PubMed=31400703).
DI   NCIt; C116573; Dravet syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Female
AG   9Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 06-09-19; Version: 2
//
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).
//