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Cellosaurus TVGHi007-A (CVCL_YE47)

[Text version]
Cell line name TVGHi007-A
Synonyms DE5205
Accession CVCL_YE47
Resource Identification Initiative To cite this cell line use: TVGHi007-A (RRID:CVCL_YE47)
Comments From: Taipei Veterans General Hospital; Taipei; Taiwan.
Population: Chinese; Taiwan.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 4284; GJB2; Simple; p.Leu79Cysfs*3 (c.235delC); ClinVar=VCV000017014; Zygosity=Homozygous (PubMed=32388442).
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 Male
Age at sampling 7Y
Category Induced pluripotent stem cell
Publications

PubMed=32388442; DOI=10.1016/j.scr.2020.101795
Huang C.-Y., Tsai Y.-H., Tsai Y.-C., Lu Y.-C., Chan Y.-H., Hsu C.-J., Chiou S.-H., Wu C.-C., Cheng Y.-F.
Establishment of an induced pluripotent stem cell (iPSC) line from a 7-year-old male patient with profound hearing loss carrying c.235delC in GJB2 gene.
Stem Cell Res. 45:101795-101795(2020)

Cross-references
Cell line databases/resources hPSCreg; TVGHi007-A
SKIP; SKIP005794
Encyclopedic resources Wikidata; Q98133702
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number7