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Cellosaurus CPGHi005-A (CVCL_B5QQ)

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Cell line name CPGHi005-A
Accession CVCL_B5QQ
Resource Identification Initiative To cite this cell line use: CPGHi005-A (RRID:CVCL_B5QQ)
Comments From: Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital; Beijing; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:11190; SOX10; Unexplicit; SVA-F retrotransposon insertion in intron 2; Zygosity=Heterozygous (PubMed=35691110).
Disease Waardenburg syndrome (NCIt: C85222)
Waardenburg syndrome (ORDO: Orphanet_3440)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 15Y
Category Induced pluripotent stem cell
Publications

PubMed=35691110; DOI=10.1016/j.scr.2022.102831
Xiao-Hong Li, Xue Gao, Sha-Sha Huang, Ming-Yu Han, Dong-Yang Kang, Jin-Yuan Yang, Xie-Dong Wu, Qiu-Chen Zheng, Yong-Yi Yuan, Pu Dai, Guo-Jian Wang;
Establishment of an iPSC line (CPGHi005-A) from a patient with Waardenburg syndrome carrying a heterozygous SVA-F retrotransposon insertion into SOX10.
Stem Cell Res. 62:102831-102831(2022)

Cross-references
Cell line databases/resources hPSCreg; CPGHi005-A
Biological sample resources BioSamples; SAMEA12097270
Encyclopedic resources Wikidata; Q111733133
Entry history
Entry creation17-Mar-2022
Last entry update19-Dec-2024
Version number6