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Cellosaurus WMUi016-A (CVCL_A4YB)

[Text version]
Cell line name WMUi016-A
Synonyms X-Dent-UiPSC
Accession CVCL_A4YB
Resource Identification Initiative To cite this cell line use: WMUi016-A (RRID:CVCL_A4YB)
Comments From: Wenzhou Medical University; Wenzhou; China.
Population: Chinese; Han.
Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Sequence variations
  • Mutation; HGNC; 2023; CLCN5; Simple; p.Arg718Ter (c.2152C>T); ClinVar=VCV000011797; Zygosity=Hemizygous (PubMed=33545640).
Disease Dent disease (NCIt: C123260)
Dent disease type 1 (ORDO: Orphanet_93622)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 4Y
Category Induced pluripotent stem cell
Publications

PubMed=33545640; DOI=10.1016/j.scr.2021.102209
Chen H.-H., Ding Y.-J., Zhou W.-Z., Li J.-J., Qian W.-T., Zhang Z., Li C., Tong H.-F., Rong X., Chu M.-P., Chen C.-D., Wang D.-X., Guo X.-L.
Establishment of an induced pluripotent stem cell line (WMUi016-A) from a patient with X-linked Dent disease (X-Dent) carrying the hemizygote mutation p.R718* (c.2152C > T) in the CLCN5 gene.
Stem Cell Res. 51:102209-102209(2021)

Cross-references
Cell line databases/resources hPSCreg; WMUi016-A
Encyclopedic resources Wikidata; Q107117477
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number4