Cellosaurus logo
expasy logo

Cellosaurus JUFMDOi007-A (CVCL_D0GY)

[Text version]
Cell line name JUFMDOi007-A
Synonyms UP007
Accession CVCL_D0GY
Resource Identification Initiative To cite this cell line use: JUFMDOi007-A (RRID:CVCL_D0GY)
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:12601; USH2A; Simple; p.AspValCys636_638ValThrGly (c.1907_1912ATGTTT>TCACAG); Zygosity=Heterozygous (PubMed=37099934).
  • Mutation; HGNC; HGNC:12601; USH2A; Simple; p.Leu2276fs*12 (c.8328_8329delAA); Zygosity=Heterozygous (PubMed=37099934).
Disease Usher syndrome type 2 (NCIt: C126328)
Usher syndrome type 2 (ORDO: Orphanet_231178)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 18Y
Category Induced pluripotent stem cell
Publications

PubMed=37099934; DOI=10.1016/j.scr.2023.103100
Ukaji T., Takahashi-Shibata M., Arai D., Tsutsumi H., Tajima S., Akamatsu W., Matsumoto F., Ikeda K., Usami S.-i., Kamiya K.
Generation and characterization of a human iPSC line (JUFMDOi007-A) from a patient with Usher syndrome due to mutation in USH2A.
Stem Cell Res. 69:103100-103100(2023)

Cross-references
Cell line databases/resources hPSCreg; JUFMDOi007-A
Biological sample resources BioSamples; SAMEA112896423
Encyclopedic resources Wikidata; Q123032775
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number3