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Cellosaurus CSUXHi004-A (CVCL_A2YC)

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Cell line name CSUXHi004-A
Accession CVCL_A2YC
Resource Identification Initiative To cite this cell line use: CSUXHi004-A (RRID:CVCL_A2YC)
Comments From: Department of Neurology, Xiangya Hospital of Central South University; Changsha; China.
Population: Chinese; Han.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:8617; PAX3; Simple; c.452-2A>G; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=33774334).
Disease Waardenburg syndrome type 1 (NCIt: C75008)
Waardenburg syndrome (ORDO: Orphanet_3440)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 6Y
Category Induced pluripotent stem cell
Publications

PubMed=33774334; DOI=10.1016/j.scr.2021.102300
Jie Wen, Chu-Feng He, Yong Feng, Jian Song, Jing Liu, Xian-Lin Liu, Ling-Yun Mei, Jie Ling, Hong-Sheng Chen, Ya-Lan Liu;
Establishment of an iPSC line (CSUXHi004-A) from a patient with Waardenburg syndrome type I caused by a PAX3 splice mutation.
Stem Cell Res. 53:102300-102300(2021)

Cross-references
Cell line databases/resources hPSCreg; CSUXHi004-A
Biological sample resources BioSamples; SAMEA7873284
Encyclopedic resources Wikidata; Q105506721
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number5