ID   ZJSHi001-A
DR   BioSamples; SAMEA7462435
DR   hPSCreg; ZJSHi001-A
DR   Wikidata; Q102115153
RX   PubMed=33607466;
CC   From: Department of Pediatrics, The Second Affiliated Hospital of Zhejiang University School of Medicine; Hangzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 6231; KCNB1; Simple; p.Glu330Asp (c.990G>T); Zygosity=Heterozygous (PubMed=33607466).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C175047; Developmental and epileptic encephalopathy 26
DI   ORDO; Orphanet_442835; Non-specific early-onset epileptic encephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   6Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 29-06-23; Version: 6
RX   PubMed=33607466; DOI=10.1016/j.scr.2021.102224;
RA   Guo Y.-F., Wang J.-D., Wang Z.-L., Lou Y.-T., Chen W.-Y., Sheng M.,
RA   Wang Y., Zhang B.-J., Gao L.-Y., Feng J.-H.;
RT   "Establishment of an induced pluripotent stem cell line (ZJSHi001-A)
RT   from a patient with epileptic encephalopathy carrying KCNB1 Glu330Asp
RT   mutation.";
RL   Stem Cell Res. 52:102224-102224(2021).