Cellosaurus cell line SDCHi008-A (CVCL

Cross-references
Cell line name	SDCHi008-A
Synonyms	CX2
Accession	CVCL_E9CY
Resource Identification Initiative	To cite this cell line use: SDCHi008-A (RRID:CVCL_E9CY)
Comments	From: Children's Hospital Affiliated to Shandong University; Jinan; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:6296; KCNQ2; Simple; p.Gly290Ser (c.868G>A); ClinVar=VCV000369768; Zygosity=Heterozygous (PubMed=39079397).
Disease	Developmental and epileptic encephalopathy 7 (NCIt: C192087) KCNQ2-related epileptic encephalopathy (ORDO: Orphanet_439218)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	10Y
Category	Induced pluripotent stem cell
Publications	PubMed=39079397; DOI=10.1016/j.scr.2024.103507 Hong-Wei Zhang, Qi Zhang, Xiao Chen, Meng Wang, Li-Li Li, Chun-Mei Yu; Establishment of a transgene-free iPS cell line (SDCHi008-A) from a young patient bearing a KCNQ2 mutation and suffering from Epilepsy. Stem Cell Res. 80:103507-103507(2024)
Cell line databases/resources	hPSCreg; SDCHi008-A
Biological sample resources	BioSamples; SAMEA115716971
Entry history
Entry creation	14-Aug-2025
Last entry update	14-Aug-2025
Version number	1