Cellosaurus cell line JUFMDOi004-A (CVCL

Cross-references
Cell line name	JUFMDOi004-A
Synonyms	GP004
Accession	CVCL_YM40
Resource Identification Initiative	To cite this cell line use: JUFMDOi004-A (RRID:CVCL_YM40)
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.Val37Ile (c.109G>A); ClinVar=VCV000017023; Zygosity=Homozygous (PubMed=31926383).
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	Female
Age at sampling	12Y
Category	Induced pluripotent stem cell
Publications	PubMed=31926383; DOI=10.1016/j.scr.2019.101674 Fukunaga I., Shiga T., Chen C., Oe Y., Danzaki K., Ohta S., Matsuoka R., Anzai T., Hibiya-Motegi R., Tajima S., Ikeda K., Akamatsu W., Kamiya K. Generation of the induced pluripotent stem cell (hiPSC) line (JUFMDOi004-A) from a patient with hearing loss carrying GJB2 (p.V37I) mutation. Stem Cell Res. 43:101674-101674(2020)
Cell line databases/resources	hPSCreg; JUFMDOi004-A SKIP; SKIP005606
Encyclopedic resources	Wikidata; Q94332577
Entry history
Entry creation	12-Mar-2020
Last entry update	19-Dec-2024
Version number	8