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Cellosaurus THSJTUi001-A (CVCL_A1XC)

[Text version]
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; 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)

Cross-references
Cell line databases/resources hPSCreg; THSJTUi001-A
Encyclopedic resources Wikidata; Q105511206
Entry history
Entry creation12-Jan-2021
Last entry update29-Jun-2023
Version number4