ID   ZZUPMCi001-A
AC   CVCL_B5ER
DR   hPSCreg; ZZUPMCi001-A
DR   Wikidata; Q110434452
RX   PubMed=34864221;
CC   From: Precision Medicine Center, Zhengzhou University; Zhengzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 8617; PAX3; Simple; p.Gly42Alafs*68 (c.123delG); ClinVar=VCV001048553; Zygosity=Heterozygous (PubMed=34864221).
CC   Omics: Deep exome analysis.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C75008; Waardenburg syndrome type 1
DI   ORDO; Orphanet_3440; Waardenburg syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   29Y
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34864221; DOI=10.1016/j.scr.2021.102606;
RA   Wang X.-X., Zhang S., Hu S., Xu H.-E., Zhang Q., Tang W.-X.;
RT   "Establishment of an induced pluripotent stem cell line (ZZUPMCi001-A)
RT   derived from peripheral blood mononuclear cells in a patient with type
RT   1 Waardenburg syndrome.";
RL   Stem Cell Res. 57:102606-102606(2021).
//