ID   HIHDNEi002-A
AC   CVCL_WN13
SY   iPSC-KCNA2-P4
DR   hPSCreg; HIHDNEi002-A
DR   Wikidata; Q94208329
RX   PubMed=31075689;
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.Arg297Gln (c.890G>A); ClinVar=VCV000190328; Zygosity=Heterozygous (PubMed=31075689).
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   30Y
CA   Induced pluripotent stem cell
DT   Created: 24-05-19; Last updated: 29-06-23; Version: 8
//
RX   PubMed=31075689; DOI=10.1016/j.scr.2019.101445;
RA   Schwarz N., Uysal B., Rosa F., Loffler H., Mau-Holzmann U.A.,
RA   Liebau S., Lerche H.;
RT   "Establishment of a human induced pluripotent stem cell (iPSC) line
RT   (HIHDNEi002-A) from a patient with developmental and epileptic
RT   encephalopathy carrying a KCNA2 (p.Arg297Gln) mutation.";
RL   Stem Cell Res. 37:101445-101445(2019).
//