Cellosaurus logo
expasy logo

Cellosaurus GENYOi007-A (CVCL_B5H2)

[Text][XML][JSON]
Cell line name GENYOi007-A
Synonyms W8
Accession CVCL_B5H2
Resource Identification Initiative To cite this cell line use: GENYOi007-A (RRID:CVCL_B5H2)
Comments Population: Caucasian; Spanish.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:3057; DTNA; Simple; p.Val742Phe (c.2224G>T); ClinVar=VCV000140609; Zygosity=Heterozygous; Note=Produces a novel splice site which skips exon 21 and leads to a shorter alternative transcript (from autologous cell line FMD patient III.4 LCL).
  • Mutation; HGNC; HGNC:25911; FAM136A; Simple; p.Gln76Ter (c.226C>T) (p.Gln183Ter, c.547C>T); ClinVar=VCV000140608; Zygosity=Heterozygous (from autologous cell line FMD patient III.4 LCL).
Disease Meniere disease (NCIt: C185243)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_E7TW ! FMD patient III.4 LCL
Sex of cell Female
Age at sampling >22Y
Category Induced pluripotent stem cell
Publications

CLPUB00799
Lidia Frejo, Francisca Elvira Cara, Alvaro Gallego-Martinez, Jose Antonio Lopez-Escamez;
DTNA and FAM136A expression in a 3D inner ear organoid model of Meniere disease.
J. Vestib. Res. 32 Suppl. 1:S34-S35(2022)

Cross-references
Cell line databases/resources hPSCreg; GENYOi007-A
Biological sample resources BioSamples; SAMEA9438115
Encyclopedic resources Wikidata; Q110432812
Entry history
Entry creation16-Dec-2021
Last entry update10-Apr-2025
Version number6