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Cellosaurus JUFMDOi002-A (CVCL_YM38)

[Text version]
Cell line name JUFMDOi002-A
Synonyms GC002
Accession CVCL_YM38
Resource Identification Initiative To cite this cell line use: JUFMDOi002-A (RRID:CVCL_YM38)
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; 4284; GJB2; Simple; p.Gly45Glu (c.134G>A); ClinVar=VCV000017033; Zygosity=Heterozygous (PubMed=33780732).
  • Mutation; HGNC; 4284; GJB2; Simple; p.Tyr136Ter (c.408C>A); ClinVar=VCV000189092; Zygosity=Heterozygous (PubMed=33780732).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 24Y
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)

Cross-references
Cell line databases/resources hPSCreg; JUFMDOi002-A
Encyclopedic resources Wikidata; Q94332563
Entry history
Entry creation12-Mar-2020
Last entry update29-Jun-2023
Version number5