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Cellosaurus JUFMDOi004-A (CVCL_YM40)

[Text version]

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 sampling site: Peripheral blood.
Sequence variations Mutation; 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

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 creation12-Mar-2020
Last entry update20-May-2021
Version number5