ID   GM20185
AC   CVCL_GS91
DR   CLO; CLO_0027949
DR   Coriell; GM20185
DR   Wikidata; Q54850829
CC   Sequence variation: Mutation; HGNC; HGNC:17009; TRIOBP; Simple; p.Arg788Ter (c.2362C>T); ClinVar=VCV000001493; Zygosity=Homozygous (Coriell=GM20185).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129023; Deafness, autosomal recessive 28
DI   ORDO; Orphanet_90636; Autosomal recessive non-syndromic sensorineural deafness type DFNB
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   12Y
CA   Transformed cell line
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 12
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