ID   GM20175
AC   CVCL_HQ12
DR   Coriell; GM20175
DR   Wikidata; Q54850826
CC   Sequence variation: Mutation; HGNC; HGNC:4893; HGF; Simple; c.482+1986_1988delTGA; Zygosity=Homozygous (Coriell=GM20175).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129874; Deafness, autosomal recessive 39
DI   ORDO; Orphanet_90636; Autosomal recessive non-syndromic sensorineural deafness type DFNB
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   20Y
CA   Transformed cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 10
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