ID   GENYOi007-A
AC   CVCL_B5H2
SY   W8
DR   BioSamples; SAMEA9438115
DR   hPSCreg; GENYOi007-A
DR   Wikidata; Q110432812
CC   Sequence variation: Mutation; HGNC; 3057; DTNA; Simple; p.Val742Phe (c.2224G>T); ClinVar=VCV000140609; Zygosity=Heterozygous (hPSCreg=GENYOi007-A).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C185243; Meniere disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 29-06-23; Version: 4
//