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Cellosaurus GE#21 (CVCL_RL33)

[Text version]
Cell line name GE#21
Synonyms GE #21
Accession CVCL_RL33
Resource Identification Initiative To cite this cell line use: GE#21 (RRID:CVCL_RL33)
Comments Population: Japanese.
Omics: Deep exome analysis.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:8818; SLC26A4; Simple_corrected; p.His723Arg (c.2168A>G); ClinVar=VCV000004825; Zygosity=Homozygous; Note=By TALEN (PubMed=28052261).
Disease Pendred syndrome (NCIt: C121745)
Pendred syndrome (ORDO: Orphanet_705)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_RL26 (PDSH723R01#16)
Sex of cell Female
Age at sampling 7Y
Category Induced pluripotent stem cell
Publications

PubMed=28052261; DOI=10.1016/j.celrep.2016.12.020
Hosoya M., Fujioka M., Sone T., Okamoto S., Akamatsu W., Ukai H., Ueda H.R., Ogawa K., Matsunaga T., Okano H.
Cochlear cell modeling using disease-specific iPSCs unveils a degenerative phenotype and suggests treatments for congenital progressive hearing loss.
Cell Rep. 18:68-81(2017)

Cross-references
Cell line databases/resources SKIP; SKIP001741
Encyclopedic resources Wikidata; Q54835533
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number11