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Cellosaurus GE#22 (CVCL_RL34)

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Cell line name GE#22
Synonyms GE #22
Accession CVCL_RL34
Resource Identification Initiative To cite this cell line use: GE#22 (RRID:CVCL_RL34)
Comments Population: Japanese.
Omics: Genomics; Whole exome sequencing.
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
Makoto Hosoya, Masato Fujioka, Takefumi Sone, Satoshi Okamoto, Wado Akamatsu, Hideki Ukai, Hiroki R. Ueda, Kaoru Ogawa, Tatsuo Matsunaga, Hideyuki Okano;
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; SKIP001740
Encyclopedic resources Wikidata; Q54835534
Entry history
Entry creation05-Mar-2018
Last entry update10-Apr-2025
Version number12