ID   SDCHi007-A
AC   CVCL_E9CW
SY   RY5; RY-5
DR   BioSamples; SAMEA115797731
DR   hPSCreg; SDCHi007-A
RX   PubMed=39002250;
CC   From: Children's Hospital Affiliated to Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:800; ATP1A2; Simple; p.Leu108Arg (c.323T>G); Zygosity=Heterozygous (PubMed=39002250).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C217085; Developmental and epileptic encephalopathy 98
DI   ORDO; Orphanet_442835; Non-specific early-onset epileptic encephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   2Y
CA   Induced pluripotent stem cell
DT   Created: 14-08-25; Last updated: 14-08-25; Version: 1
//
RX   PubMed=39002250; DOI=10.1016/j.scr.2024.103490;
RA   Zhang, Hong-Wei
RA   Zhang, Tong
RA   Wang, Ya-Ping
RA   Shi, Jian-Guo
RA   Meng, Yao
RA   Zhang, Qi
RA   Guo, Qing-Wei
RA   Duan, Chun-Hong
RT   "Establishment of a transgene-free iPS cell line (SDCHi007-A) from a
RT   young patient bearing a ATP1A2 mutation and suffering from Epilepsy.";
RL   Stem Cell Res. 79:103490-103490(2024).
//