ID   UUIGPi015-A
AC   CVCL_B5GU
SY   DD3A
DR   hPSCreg; UUIGPi015-A
DR   Wikidata; Q110433952
RX   PubMed=35203050;
CC   From: Department of Immunology, Genetics and Pathology, Uppsala University; Uppsala; Sweden.
CC   Population: Caucasian.
CC   Sequence variation: Gene deletion; HGNC; 10585; SCN1A; Zygosity=Heterozygous; Note=2,9 Mbp deletion that spans 10 genes (PubMed=35203050).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C147071; Developmental and epileptic encephalopathy 6A
DI   ORDO; Orphanet_33069; Dravet syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   6Y
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=35203050; DOI=10.1016/j.scr.2022.102712;
RA   Schuster J., de Guidi C., Tripathi R., Klar J., Dahl N.;
RT   "Generation of a human iPSC line (UUIGPi015-A) from a patient with
RT   Dravet syndrome and a 2.9 Mb deletion spanning SCN1A on chromosome
RT   2.";
RL   Stem Cell Res. 60:102712-102712(2022).
//