ID   SDCHi008-A
AC   CVCL_E9CY
SY   CX2
DR   BioSamples; SAMEA115716971
DR   hPSCreg; SDCHi008-A
RX   PubMed=39079397;
CC   From: Children's Hospital Affiliated to Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:6296; KCNQ2; Simple; p.Gly290Ser (c.868G>A); ClinVar=VCV000369768; Zygosity=Heterozygous (PubMed=39079397).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C192087; Developmental and epileptic encephalopathy 7
DI   ORDO; Orphanet_439218; KCNQ2-related epileptic encephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 14-08-25; Last updated: 14-08-25; Version: 1
//
RX   PubMed=39079397; DOI=10.1016/j.scr.2024.103507;
RA   Zhang, Hong-Wei
RA   Zhang, Qi
RA   Chen, Xiao
RA   Wang, Meng
RA   Li, Li-Li
RA   Yu, Chun-Mei
RT   "Establishment of a transgene-free iPS cell line (SDCHi008-A) from a
RT   young patient bearing a KCNQ2 mutation and suffering from Epilepsy.";
RL   Stem Cell Res. 80:103507-103507(2024).
//