Cellosaurus cell line JUFMDOi008-A (CVCL

Cellosaurus JUFMDOi008-A (CVCL_D0GZ)

Cross-references
Cell line name	JUFMDOi008-A
Synonyms	CP009
Accession	CVCL_D0GZ
Resource Identification Initiative	To cite this cell line use: JUFMDOi008-A (RRID:CVCL_D0GZ)
Comments	From: Department of Otorhinolaryngology, Juntendo University Faculty of Medicine; Tokyo; Japan. Population: Japanese. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:13733; CDH23; Simple; p.Pro240Leu (c.719C>T); ClinVar=VCV000004928; Zygosity=Heterozygous (PubMed=38878669). Mutation; HGNC; HGNC:13733; CDH23; Simple; p.Arg2029Trp (c.6085C>T); ClinVar=VCV000446446; Zygosity=Heterozygous (PubMed=38878669).
Disease	Deafness, autosomal recessive 12 (NCIt: C201586) Autosomal recessive non-syndromic sensorineural deafness type DFNB (ORDO: Orphanet_90636)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	45Y
Category	Induced pluripotent stem cell
Publications	PubMed=38878669; DOI=10.1016/j.scr.2024.103471 Daisuke Arai, Mikako Takahashi-Shibata, Takao Ukaji, Harumi Tsutsumi, Shori Tajima, Shin-ya Nishio, Kei-ichi Ishikawa, Wado Akamatsu, Fumihiko Matsumoto, Katsuhisa Ikeda, Shin-ichi Usami, Kazusaku Kamiya; Generation of an induced pluripotent stem cell line from a late-onset, progressive high frequency hearing loss patient due to mutation in CDH23. Stem Cell Res. 79:103471-103471(2024)
Cell line databases/resources	hPSCreg; JUFMDOi008-A
Biological sample resources	BioSamples; SAMEA114231529
Encyclopedic resources	Wikidata; Q123032776
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	3