ID   GENYOi007-A
AC   CVCL_B5H2
SY   W8
DR   BioSamples; SAMEA9438115
DR   hPSCreg; GENYOi007-A
DR   Wikidata; Q110432812
RX   CelloPub=CLPUB00799;
CC   Population: Caucasian; Spanish.
CC   Sequence variation: 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).
CC   Sequence variation: 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).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C185243; Meniere disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_E7TW ! FMD patient III.4 LCL
SX   Female
AG   >22Y
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 10-04-25; Version: 6
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RX   CelloPub=CLPUB00799;
RA   Frejo L., Cara F.E., Gallego-Martinez A., Lopez-Escamez J.A.;
RT   "DTNA and FAM136A expression in a 3D inner ear organoid model of
RT   Meniere disease.";
RL   J. Vestib. Res. 32 Suppl. 1:S34-S35(2022).
//