Cellosaurus cell line USTCi001-A-1 (CVCL

Cross-references
Cell line name	USTCi001-A-1
Accession	CVCL_ZU60
Resource Identification Initiative	To cite this cell line use: USTCi001-A-1 (RRID:CVCL_ZU60)
Comments	From: School of Life Sciences, University of Science and Technology of China; Hefei; China. Population: Asian. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:10585; SCN1A; Simple_corrected; p.Gln1923Arg (c.5768A>G); ClinVar=VCV003067164; Zygosity=Heterozygous; Note=By TALEN (PubMed=32544858).
Disease	Developmental and epileptic encephalopathy 6A (NCIt: C147071) Dravet syndrome (ORDO: Orphanet_33069)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_ZE23 (USTCi001-A)
Sex of cell	Male
Age at sampling	10Y
Category	Induced pluripotent stem cell
Publications	PubMed=32544858; DOI=10.1016/j.scr.2020.101864 Hui-Fang Zhao, Lang He, Shuai Li, Hua-Lin Huang, Feng Tang, Xiao-Bo Han, Zuo-Xian Lin, Chao Tian, Rong-Qi Huang, Peng Zhou, Ju-Fang Huang ...Show all 13 authors... , Si-Hao Deng, Zhi-Yuan Li; Show fewer authors Generation of corrected-hiPSC (USTCi001-A-1) from epilepsy patient iPSCs using TALEN-mediated editing of the SCN1A gene. Stem Cell Res. 46:101864-101864(2020)
Cell line databases/resources	hPSCreg; USTCi001-A-1 SKIP; SKIP005779
Encyclopedic resources	Wikidata; Q98134374
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	9