ID   GM25492
AC   CVCL_D2Z7
DR   Coriell; GM25492
DR   Wikidata; Q127380899
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4284; GJB2; Simple; p.Glu120del (c.355GAG[1]) (c.358_360delGAG); ClinVar=VCV000017006; Zygosity=Heterozygous (Coriell=GM25492).
CC   Sequence variation: Mutation; HGNC; HGNC:4284; GJB2; Simple; p.Met195Ile (c.585G>A); ClinVar=VCV000438621; Zygosity=Heterozygous (Coriell=GM25492).
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   Female
AG   1Y
CA   Transformed cell line
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 3
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