ID   GM23835
AC   CVCL_GT02
DR   Coriell; GM23835
DR   Wikidata; Q54853363
CC   Sequence variation: Mutation; HGNC; HGNC:4284; GJB2; Simple; p.Gly12Valfs*2 (c.35delG); ClinVar=VCV000017004; Zygosity=Heterozygous (Coriell=GM23835).
CC   Sequence variation: Mutation; HGNC; HGNC:4284; GJB2; Simple; p.Met34Thr (c.101T>C); ClinVar=VCV000017000; Zygosity=Heterozygous (Coriell=GM23835).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129022; Deafness, autosomal recessive 1A
DI   ORDO; Orphanet_90636; Autosomal recessive non-syndromic sensorineural deafness type DFNB
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   9Y
CA   Transformed cell line
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 14
//