ID   GM20190
AC   CVCL_GS93
DR   CLO; CLO_0027940
DR   Coriell; GM20190
DR   Wikidata; Q54850832
RX   PubMed=17186462;
CC   Population: Pakistani.
CC   Sequence variation: Mutation; HGNC; HGNC:26401; MARVELD2; Simple; c.1183-1G>A (IVS3-1G>A) (p.Cys395fs*396); ClinVar=VCV000001195; Zygosity=Homozygous; Note=Splice acceptor mutation (Coriell=GM20190).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129024; Deafness, autosomal recessive 49
DI   ORDO; Orphanet_90636; Autosomal recessive non-syndromic sensorineural deafness type DFNB
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   25Y
CA   Transformed cell line
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 14
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RX   PubMed=17186462; DOI=10.1086/510022; PMCID=PMC1698716;
RA   Riazuddin S., Ahmed Z.M., Fanning A.S., Lagziel A., Kitajiri S.-i.,
RA   Ramzan K., Khan S.N., Chattaraj P., Friedman P.L., Anderson J.M.,
RA   Belyantseva I.A., Forge A., Riazuddin S., Friedman T.B.;
RT   "Tricellulin is a tight-junction protein necessary for hearing.";
RL   Am. J. Hum. Genet. 79:1040-1051(2006).
//