ID   CIPi003-A
AC   CVCL_C1SV
DR   hPSCreg; CIPi003-A
DR   Wikidata; Q114310967
RX   PubMed=37722146;
CC   From: Children's Hospital of Capital Institute of Pediatrics; Beijing; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 18423; DEPDC5; Simple; p.Gln83Ter (c.247C>T); ClinVar=VCV001073664; Zygosity=Heterozygous (PubMed=37722146).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C161005; Familial focal epilepsy with variable foci 1
DI   ORDO; Orphanet_98820; Familial focal epilepsy with variable foci
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   2M
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 05-10-23; Version: 4
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RX   PubMed=37722146; DOI=10.1016/j.scr.2023.103195;
RA   Shen M.-X., Fan S.-Q., Wu F., Cheng P.-D., Gao Y.-Y., Zheng P.,
RA   Feng S., Ji X.-N., Chen Q., Zhang X.;
RT   "Generation of a human iPSC line CIPi003-A from a patient with focal
RT   epilepsy harboring a heterozygous mutation in DEPDC5 gene.";
RL   Stem Cell Res. 72:103195-103195(2023).
//