Cellosaurus cell line CIPi002-A (CVCL

Cross-references
Cell line name	CIPi002-A
Accession	CVCL_C0II
Resource Identification Initiative	To cite this cell line use: CIPi002-A (RRID:CVCL_C0II)
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; HGNC:10596; SCN8A; Simple; p.Met367Val (c.1099A>G); ClinVar=VCV000207105; Zygosity=Heterozygous (PubMed=35853415).
Disease	Developmental and epileptic encephalopathy 13 (NCIt: C188139) Non-specific early-onset epileptic encephalopathy (ORDO: Orphanet_442835)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	3Y5M
Category	Induced pluripotent stem cell
Publications	PubMed=35853415; DOI=10.1016/j.scr.2022.102862 Zhang P.-P., Zheng P., Ji X.-N., Gao Y.-Y., Zhang X., Chen Q. Generation of a human induced pluripotent stem cell line (CIPi002-A) from an early infantile epileptic encephalopathy patient with a heterozygous mutation in SCN8A. Stem Cell Res. 63:102862-102862(2022)
Cell line databases/resources	hPSCreg; CIPi002-A
Biological sample resources	BioSamples; SAMEA14436310
Encyclopedic resources	Wikidata; Q112929388
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	5