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Cellosaurus KEIUi005-A (CVCL_E4DY)

[Text version]
Cell line name KEIUi005-A
Synonyms EYA4-2
Accession CVCL_E4DY
Resource Identification Initiative To cite this cell line use: KEIUi005-A (RRID:CVCL_E4DY)
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.Gln393Ter (c.1177C>T); 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 Male
Age at sampling 45Y
Category Induced pluripotent stem cell
Publications

PubMed=39002249; DOI=10.1016/j.scr.2024.103489
Saegusa C., Mutai H., Saeki T., Matsuzaki S., Mizukoshi A., Kitajiri S.-i., Matsunaga T., Hosoya M., Okano H., Fujioka M.
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; KEIUi005-A
Biological sample resources BioSamples; SAMEA115396986
Entry history
Entry creation19-Dec-2024
Last entry update19-Dec-2024
Version number1