ID   KEIUi005-A
AC   CVCL_E4DY
SY   EYA4-2
DR   BioSamples; SAMEA115396986
DR   hPSCreg; KEIUi005-A
RX   PubMed=39002249;
CC   From: Keio University; Tokyo; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:3522; EYA4; Simple; p.Gln393Ter (c.1177C>T); Zygosity=Heterozygous (PubMed=39002249).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C212887; Deafness, autosomal dominant 10
DI   ORDO; Orphanet_90635; Autosomal dominant non-syndromic sensorineural deafness type DFNA
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   45Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
//
RX   PubMed=39002249; DOI=10.1016/j.scr.2024.103489;
RA   Saegusa C., Mutai H., Saeki T., Matsuzaki S., Mizukoshi A.,
RA   Kitajiri S.-i., Matsunaga T., Hosoya M., Okano H., Fujioka M.;
RT   "Generation of four induced pluripotent stem cell lines (KEIUi004-A,
RT   KEIUi005-A, KEIUi006-A, and KEIUi007-A) from patients with
RT   sensorineural hearing loss with mutation in EYA4 gene.";
RL   Stem Cell Res. 79:103489-103489(2024).
//