ID   DUK19946
AC   CVCL_F1VG
RX   PubMed=16166172;
CC   Sequence variation: Mutation; HGNC; HGNC:4284; GJB2; Simple; p.Gly12Valfs*2 (c.35delG); ClinVar=VCV000017004; Zygosity=Heterozygous (PubMed=16166172).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Donor information: No information is provided on the patient sex, age and exact disease status.
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   Sex unspecified
AG   Age unspecified
CA   Transformed cell line
DT   Created: 27-11-25; Last updated: 27-11-25; Version: 1
//
RX   PubMed=16166172; DOI=10.1373/clinchem.2005.048694;
RA   Bernacki, Susan H.
RA   Beck, Jeanne C.
RA   Stankovic, Ana K.
RA   Williams, Laurina O.
RA   Amos Wilson, Jean
RA   Snow-Bailey, Karen
RA   Farkas, Daniel H.
RA   Friez, Michael J.
RA   Hantash, Feras M.
RA   Matteson, Karla J.
RA   Monaghan, Kristin G.
RA   Muralidharan, Kasinathan
RA   Pratt, Victoria M.
RA   Prior, Thomas W.
RA   Richie, Kristy L.
RA   Levin, Barbara C.
RA   Rohlfs, Elizabeth M.
RA   Schaefer, Frederick V.
RA   Shrimpton, Antony E.
RA   Spector, Elaine B.
RA   Stolle, Catherine A.
RA   Strom, Charles M.
RA   Thibodeau, Stephen N.
RA   Cole, Eugene C.
RA   Goodman, Barbara K.
RA   Stenzel, Timothy T.
RT   "Genetically characterized positive control cell lines derived from
RT   residual clinical blood samples.";
RL   Clin. Chem. 51:2013-2024(2005).
//