ID   CIPi002-A
AC   CVCL_C0II
DR   BioSamples; SAMEA14436310
DR   hPSCreg; CIPi002-A
DR   Wikidata; Q112929388
RX   PubMed=35853415;
CC   From: Children's Hospital of Capital Institute of Pediatrics; Beijing; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 10596; SCN8A; Simple; p.Met367Val (c.1099A>G); ClinVar=VCV000207105; Zygosity=Heterozygous (PubMed=35853415).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C188139; Developmental and epileptic encephalopathy 13
DI   ORDO; Orphanet_442835; Non-specific early-onset epileptic encephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   3Y5M
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35853415; DOI=10.1016/j.scr.2022.102862;
RA   Zhang P.-P., Zheng P., Ji X.-N., Gao Y.-Y., Zhang X., Chen Q.;
RT   "Generation of a human induced pluripotent stem cell line (CIPi002-A)
RT   from an early infantile epileptic encephalopathy patient with a
RT   heterozygous mutation in SCN8A.";
RL   Stem Cell Res. 63:102862-102862(2022).
//