ID   GM09070
AC   CVCL_AU43
DR   CLO; CLO_0010804
DR   BioSample; SAMN00798499
DR   Coriell; GM09070
DR   Wikidata; Q54843553
RX   CelloPub=CLPUB00447;
RX   PubMed=15578223;
CC   Population: Caucasian; Acadian.
CC   Sequence variation: Mutation; HGNC; 12597; USH1C; Simple; p.Val72Glufs*65 (c.216G>A) (p.Val72Val); ClinVar=VCV000005143; Zygosity=Homozygous; Note=New splice site creation (PubMed=15578223).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C126327; Usher syndrome type 1
DI   ORDO; Orphanet_231169; Usher syndrome type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   21Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 29-06-23; Version: 11
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=15578223; DOI=10.1007/s00439-004-1217-4;
RA   Lentz J., Savas S., Ng S.-S., Athas G., Deininger P.L., Keats B.J.B.;
RT   "The USH1C 216G->A splice-site mutation results in a 35-base-pair
RT   deletion.";
RL   Hum. Genet. 116:225-227(2005).
//