ID   GM02742
AC   CVCL_N002
SY   GM02742A; GM17043; GM17370
DR   CLO; CLO_0013694
DR   CLO; CLO_0014643
DR   CLO; CLO_0014833
DR   BioSample; SAMN00808072
DR   Coriell; GM02742
DR   Coriell; GM17043
DR   Coriell; GM17370
DR   Wikidata; Q54837663
RX   CelloPub=CLPUB00447;
CC   Part of: Human variation panel.
CC   Population: Caucasian; Greek.
CC   Sequence variation: Mutation; HGNC; 1368; CA1; Simple; p.Arg247His (c.740G>A) (R246H); ClinVar=VCV000017606; Zygosity=Heterozygous (from familial inference).
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   44Y
CA   Transformed cell line
DT   Created: 05-11-13; Last updated: 29-06-23; Version: 15
//
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).
//