Cellosaurus cell line JUFMDOi001-A (CVCL

Cross-references
Cell line name	JUFMDOi001-A
Synonyms	GP001
Accession	CVCL_YM37
Resource Identification Initiative	To cite this cell line use: JUFMDOi001-A (RRID:CVCL_YM37)
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:4284; GJB2; Simple; p.Gly45Glu (c.134G>A); ClinVar=VCV000017033; Zygosity=Homozygous (PubMed=33780732). Mutation; HGNC; HGNC:4284; GJB2; Simple; p.Tyr136Ter (c.408C>A); ClinVar=VCV000189092; Zygosity=Homozygous (PubMed=33780732).
Disease	Deafness, autosomal recessive 1A (NCIt: C129022) Autosomal recessive non-syndromic sensorineural deafness type DFNB (ORDO: Orphanet_90636)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	19Y
Category	Induced pluripotent stem cell
Publications	PubMed=33780732; DOI=10.1016/j.scr.2021.102290 Fukunaga I., Oe Y., Danzaki K., Ohta S., Chen C., Iizumi M., Shiga T., Matsuoka R., Anzai T., Hibiya-Motegi R., Tajima S., Ikeda K., Akamatsu W., Kamiya K. Generation of two iPSC lines from siblings of a homozygous patient with hearing loss and a heterozygous carrier with normal hearing carrying p.G45E/Y136X mutation in GJB2. Stem Cell Res. 53:102290-102290(2021)
Cell line databases/resources	hPSCreg; JUFMDOi001-A
Encyclopedic resources	Wikidata; Q94332557
Entry history
Entry creation	12-Mar-2020
Last entry update	19-Dec-2024
Version number	6