Cellosaurus cell line USTCi002-A (CVCL

Cross-references
Cell line name	USTCi002-A
Accession	CVCL_A4DS
Resource Identification Initiative	To cite this cell line use: USTCi002-A (RRID:CVCL_A4DS)
Comments	From: School of Life Sciences, University of Science and Technology of China; Hefei; China. Population: Caucasian. Derived from site: In situ; Fetal lung; UBERON=UBERON_0005597. Cell type: Fibroblast of lung; CL=CL_0002553.
Sequence variations	Mutation; HGNC; HGNC:10585; SCN1A; Simple_edited; p.Gln1923Arg (c.5768A>G); ClinVar=VCV003067164; Zygosity=Heterozygous; Note=By TALEN (PubMed=33189042).
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_A4DT (Nor-iPSC)
Sex of cell	Female
Age at sampling	16FW
Category	Induced pluripotent stem cell
Publications	PubMed=33189042; DOI=10.1016/j.scr.2020.102058 Hui-Fang Zhao, Shuai Li, Zuo-Xian Lin, Lang He, Wei-Yue Deng, Xiao-Bo Han, Feng Tang, Na Cheng, Peng Zhou, Rong-Qi Huang, Si-Hao Deng ...Show all 13 authors... , Ju-Fang Huang, Zhi-Yuan Li; Show fewer authors A heterozygous SCN1A (c.A5768G/+) mutant human induced pluripotent stem cell line (USTCi002-A) generated using TALEN-mediated precise gene editing. Stem Cell Res. 49:102058-102058(2020)
Cell line databases/resources	hPSCreg; USTCi002-A
Encyclopedic resources	Wikidata; Q105511648
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	8