Cellosaurus cell line THSJTUi001-A (CVCL

Cross-references
Cell line name	THSJTUi001-A
Synonyms	LZH-C3
Accession	CVCL_A1XC
Resource Identification Initiative	To cite this cell line use: THSJTUi001-A (RRID:CVCL_A1XC)
Comments	Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:870; ATP7B; Simple; p.Arg778Leu (c.2333G>T); ClinVar=VCV000003852; Zygosity=Homozygous (PubMed=33096383).
Disease	Hepatolenticular degeneration (NCIt: C84756) Wilson disease (ORDO: Orphanet_905)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	26Y
Category	Induced pluripotent stem cell
Publications	PubMed=33096383; DOI=10.1016/j.scr.2020.102050 Wang S.-H., Wang X.-P. Generation of an induced pluripotent stem cell (iPSC) line (THSJTUi001-A) from a Wilson's disease patient harboring a homozygous Arg778Leu mutation in ATP7B gene. Stem Cell Res. 49:102050-102050(2020)
Cell line databases/resources	hPSCreg; THSJTUi001-A
Encyclopedic resources	Wikidata; Q105511206
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	5