ID   GM25204
AC   CVCL_GT04
DR   Coriell; GM25204
DR   Wikidata; Q54853842
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; HGNC:4284; GJB2; Simple; p.Gly59Alafs*18 (c.176_191del16); ClinVar=VCV000284906; Zygosity=Heterozygous (Coriell=GM25204).
CC   Sequence variation: Mutation; HGNC; HGNC:4284; GJB2; Simple; p.Leu79Cysfs*3 (c.235delC); ClinVar=VCV000017014; Zygosity=Heterozygous (Coriell=GM25204).
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   1Y6M
CA   Transformed cell line
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 13
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