Cellosaurus cell line ZZUPMCi001-A (CVCL

Cross-references
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: Genomics; Whole exome sequencing. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; 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 Xiao-Xuan Wang, Sen Zhang, Sang Hu, Hong-En Xu, Qi Zhang, Wen-Xue Tang; 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)
Cell line databases/resources	hPSCreg; ZZUPMCi001-A
Encyclopedic resources	Wikidata; Q110434452
Entry history
Entry creation	16-Dec-2021
Last entry update	10-Apr-2025
Version number	6