Cellosaurus cell line CIPi003-A (CVCL

Cross-references
Cell line name	CIPi003-A
Accession	CVCL_C1SV
Resource Identification Initiative	To cite this cell line use: CIPi003-A (RRID:CVCL_C1SV)
Comments	From: Children's Hospital of Capital Institute of Pediatrics; Beijing; China. Population: Chinese. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; 18423; DEPDC5; Simple; p.Gln83Ter (c.247C>T); ClinVar=VCV001073664; Zygosity=Heterozygous (PubMed=37722146).
Disease	Familial focal epilepsy with variable foci 1 (NCIt: C161005) Familial focal epilepsy with variable foci (ORDO: Orphanet_98820)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	2M
Category	Induced pluripotent stem cell
Publications	PubMed=37722146; DOI=10.1016/j.scr.2023.103195 Shen M.-X., Fan S.-Q., Wu F., Cheng P.-D., Gao Y.-Y., Zheng P., Feng S., Ji X.-N., Chen Q., Zhang X. Generation of a human iPSC line CIPi003-A from a patient with focal epilepsy harboring a heterozygous mutation in DEPDC5 gene. Stem Cell Res. 72:103195-103195(2023)
Cell line databases/resources	hPSCreg; CIPi003-A
Encyclopedic resources	Wikidata; Q114310967
Entry history
Entry creation	22-Sep-2022
Last entry update	05-Oct-2023
Version number	4