ID   HIHDNEi001-A
AC   CVCL_UD88
SY   iPSC-KCNA2-P3
DR   hPSCreg; HIHDNEi001-A
DR   Wikidata; Q94208325
RX   PubMed=30292882;
CC   From: Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tubingen; Tubingen; Germany.
CC   Population: Caucasian; German.
CC   Sequence variation: Mutation; HGNC; 6220; KCNA2; Simple; p.Leu328Val (c.982T>G); Zygosity=Heterozygous (PubMed=30292882).
CC   Derived from sampling site: Skin; dermis. Cell type=Fibroblast.
DI   NCIt; C155998; Developmental and epileptic encephalopathy 32
DI   ORDO; Orphanet_442835; Non-specific early-onset epileptic encephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Male
AG   13Y
CA   Induced pluripotent stem cell
DT   Created: 13-11-18; Last updated: 17-03-22; Version: 6
//
RX   PubMed=30292882; DOI=10.1016/j.scr.2018.08.019;
RA   Schwarz N., Uysal B., Rosa F., Loffler H., Mau-Holzmann U.A.,
RA   Liebau S., Lerche H.;
RT   "Generation of an induced pluripotent stem cell (iPSC) line from a
RT   patient with developmental and epileptic encephalopathy carrying a
RT   KCNA2 (p.Leu328Val) mutation.";
RL   Stem Cell Res. 33:6-9(2018).
//