ID   GM10357
AC   CVCL_AU90
SY   GM10357B
DR   CLO; CLO_0029107
DR   BioSample; SAMN00799940
DR   Coriell; GM10357
DR   Wikidata; Q54844409
RX   CelloPub=CLPUB00447;
CC   Population: Caucasian; Acadian.
CC   Sequence variation: Mutation; HGNC; 12597; USH1C; Simple; p.Val72Glufs*65 (c.216G>A) (p.Val72Val); ClinVar=VCV000005143; Zygosity=Heterozygous; Note=New splice site creation (from familial inference of GM10354).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   54Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 02-05-24; Version: 12
//
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).
//