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Cellosaurus TYWHSTi002-A (CVCL_YT48)

[Text version]
Cell line name TYWHSTi002-A
Accession CVCL_YT48
Resource Identification Initiative To cite this cell line use: TYWHSTi002-A (RRID:CVCL_YT48)
Comments From: Tianyou Hospital, Wuhan University of Science and Technology; Wuhan; China.
Population: Chinese; Han.
Omics: Deep exome analysis.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 8818; SLC26A4; Simple; c.919-2A>G (IVS7AS,A-G,-2); ClinVar=VCV000004840; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=32717573).
  • Mutation; HGNC; 8818; SLC26A4; Simple; c.1614+1G>A; ClinVar=VCV000043516; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=32717573).
Disease Pendred syndrome (NCIt: C121745)
Pendred syndrome (ORDO: Orphanet_705)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 30Y
Category Induced pluripotent stem cell
Publications

PubMed=32717573; DOI=10.1016/j.scr.2020.101919
Chen X.-S., Yang Y., Luo L.-Q., Xu L.-J., Liu B., Jiang G.-F., Hu X.-M., Zeng Y., Wang Z.-Y.
An iPSC line (TYWHSTi002-A) derived from a patient with Pendred syndrome caused by compound heterozygous mutations in the SLC26A4 gene.
Stem Cell Res. 47:101919-101919(2020)

Cross-references
Cell line databases/resources hPSCreg; TYWHSTi002-A
Biological sample resources BioSamples; SAMEA6930346
Encyclopedic resources Wikidata; Q98133706
Entry history
Entry creation12-Mar-2020
Last entry update29-Jun-2023
Version number7