ID   HIHDNEi003-A
AC   CVCL_WN14
DR   hPSCreg; HIHDNEi003-A
DR   Wikidata; Q94208333
RX   PubMed=31465893;
CC   From: Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tubingen; Tubingen; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 6220; KCNA2; Simple; p.Thr374Ala (c.1120A>G); ClinVar=VCV000559647; Zygosity=Heterozygous (PubMed=31465893).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C155998; Developmental and epileptic encephalopathy 32
DI   ORDO; Orphanet_442835; Non-specific early-onset epileptic encephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   6M
CA   Induced pluripotent stem cell
DT   Created: 24-05-19; Last updated: 29-06-23; Version: 9
//
RX   PubMed=31465893; DOI=10.1016/j.scr.2019.101543;
RA   Uysal B., Loffler H., Rosa F., Lerche H., Schwarz N.;
RT   "Generation of an induced pluripotent stem cell (iPSC) line
RT   (HIHDNEi003-A) from a patient with developmental and epileptic
RT   encephalopathy carrying a KCNA2 (p.Thr374Ala) mutation.";
RL   Stem Cell Res. 40:101543-101543(2019).
//