Cellosaurus cell line SDCHi002-A (CVCL

Cross-references
Cell line name	SDCHi002-A
Synonyms	NPRL3-ZHW4; ZHW4-IPS
Accession	CVCL_D6LF
Resource Identification Initiative	To cite this cell line use: SDCHi002-A (RRID:CVCL_D6LF)
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:14124; NPRL3; Simple; p.Gln399Ter (c.1195C>T); ClinVar=VCV000620361; Zygosity=Heterozygous (PubMed=39426047).
Disease	Familial focal epilepsy with variable foci 3 (NCIt: C217086) Familial focal epilepsy with variable foci (ORDO: Orphanet_98820)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	3Y
Category	Induced pluripotent stem cell
Publications	PubMed=39426047; DOI=10.1016/j.scr.2024.103574 Song Su, Ying Ren, Hong-Wei Zhang, Yi Liu, Yong Liu, Zi-Long Li, Tong Zhang, Fang Fang; Establishment of a transgene-free iPS cell line (SDCHi002-A) from a young patient bearing a NPRL3 mutation and suffering from epilepsy. Stem Cell Res. 81:103574-103574(2024)
Cell line databases/resources	hPSCreg; SDCHi002-A
Biological sample resources	BioSamples; SAMEA115080428
Encyclopedic resources	Wikidata; Q127384257
Entry history
Entry creation	02-May-2024
Last entry update	14-Aug-2025
Version number	3