ID   GM25493
AC   CVCL_D2YN
DR   Coriell; GM25493
DR   Wikidata; Q127380900
CC   Population: Southeast Asian; Filipino.
CC   Sequence variation: Mutation; HGNC; HGNC:4284; GJB2; Simple; p.Gly4Asp (c.11G>A); ClinVar=VCV000044724; Zygosity=Homozygous (Coriell=GM25493).
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   8Y
CA   Transformed cell line
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 3
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