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Cellosaurus KEIUi004-A (CVCL_E4DX)

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Cell line name KEIUi004-A
Synonyms EYA4-1
Accession CVCL_E4DX
Resource Identification Initiative To cite this cell line use: KEIUi004-A (RRID:CVCL_E4DX)
Comments From: Keio University; Tokyo; Japan.
Population: Japanese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:3522; EYA4; Simple; p.Pro323Glufs*80 (c.960_963del4); Zygosity=Heterozygous (PubMed=39002249).
Disease Deafness, autosomal dominant 10 (NCIt: C212887)
Autosomal dominant non-syndromic sensorineural deafness type DFNA (ORDO: Orphanet_90635)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 46Y
Category Induced pluripotent stem cell
Publications

PubMed=39002249; DOI=10.1016/j.scr.2024.103489
Chika Saegusa, Hideki Mutai, Tsubasa Saeki, Saeko Matsuzaki, Akifumi Mizukoshi, Shin-ichiro Kitajiri, Tatsuo Matsunaga, Makoto Hosoya, Hideyuki Okano, Masato Fujioka;
Generation of four induced pluripotent stem cell lines (KEIUi004-A, KEIUi005-A, KEIUi006-A, and KEIUi007-A) from patients with sensorineural hearing loss with mutation in EYA4 gene.
Stem Cell Res. 79:103489-103489(2024)

Cross-references
Cell line databases/resources hPSCreg; KEIUi004-A
Biological sample resources BioSamples; SAMEA115396970
Entry history
Entry creation19-Dec-2024
Last entry update19-Dec-2024
Version number1