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Cellosaurus ZZUPMCi001-A (CVCL_B5ER)

[Text version]
Cell line name ZZUPMCi001-A
Accession CVCL_B5ER
Resource Identification Initiative To cite this cell line use: ZZUPMCi001-A (RRID:CVCL_B5ER)
Comments From: Precision Medicine Center, Zhengzhou University; Zhengzhou; China.
Population: Chinese; Han.
Omics: Deep exome analysis.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 8617; PAX3; Simple; p.Gly42Alafs*68 (c.123delG); ClinVar=VCV001048553; Zygosity=Heterozygous (PubMed=34864221).
Disease Waardenburg syndrome type 1 (NCIt: C75008)
Waardenburg syndrome (ORDO: Orphanet_3440)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 29Y
Category Induced pluripotent stem cell
Publications

PubMed=34864221; DOI=10.1016/j.scr.2021.102606
Wang X.-X., Zhang S., Hu S., Xu H.-E., Zhang Q., Tang W.-X.
Establishment of an induced pluripotent stem cell line (ZZUPMCi001-A) derived from peripheral blood mononuclear cells in a patient with type 1 Waardenburg syndrome.
Stem Cell Res. 57:102606-102606(2021)

Cross-references
Cell line databases/resources hPSCreg; ZZUPMCi001-A
Encyclopedic resources Wikidata; Q110434452
Entry history
Entry creation16-Dec-2021
Last entry update29-Jun-2023
Version number4