ID   JUFMDOi008-A
AC   CVCL_D0GZ
SY   CP009
DR   BioSamples; SAMEA114231529
DR   hPSCreg; JUFMDOi008-A
DR   Wikidata; Q123032776
RX   PubMed=38878669;
CC   From: Department of Otorhinolaryngology, Juntendo University Faculty of Medicine; Tokyo; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:13733; CDH23; Simple; p.Pro240Leu (c.719C>T); ClinVar=VCV000004928; Zygosity=Heterozygous (PubMed=38878669).
CC   Sequence variation: Mutation; HGNC; HGNC:13733; CDH23; Simple; p.Arg2029Trp (c.6085C>T); ClinVar=VCV000446446; Zygosity=Heterozygous (PubMed=38878669).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C201586; Deafness, autosomal recessive 12
DI   ORDO; Orphanet_90636; Autosomal recessive non-syndromic sensorineural deafness type DFNB
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   45Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 3
//
RX   PubMed=38878669; DOI=10.1016/j.scr.2024.103471;
RA   Arai D., Takahashi-Shibata M., Ukaji T., Tsutsumi H., Tajima S.,
RA   Nishio S.-y., Ishikawa K.-i., Akamatsu W., Matsumoto F., Ikeda K.,
RA   Usami S.-i., Kamiya K.;
RT   "Generation of an induced pluripotent stem cell line from a
RT   late-onset, progressive high frequency hearing loss patient due to
RT   mutation in CDH23.";
RL   Stem Cell Res. 79:103471-103471(2024).
//